ARX

Summary

ARX (aristaless related homeobox, HGNC:18060) is a protein-coding gene on chromosome Xp21.3, encoding Homeobox protein ARX (Q96QS3). Transcription factor. It is haploinsufficient (ClinGen: sufficient evidence).

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy.

Source: NCBI Gene 170302 — RefSeq curated summary.

At a glance

• Gene–disease (curated): genetic developmental and epileptic encephalopathy (Definitive, ClinGen) — +11 more curated relationships
• Clinical variants (ClinVar): 978 total — 105 pathogenic, 26 likely-pathogenic
• Phenotypes (HPO): 169
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 30 downstream targets (CollecTRI)
• MANE Select transcript: NM_139058

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18060
Approved symbol	ARX
Name	aristaless related homeobox
Location	Xp21.3
Locus type	gene with protein product
Status	Approved
Aliases	ISSX, CT121, EIEE1
Ensembl gene	ENSG00000004848
Ensembl biotype	protein_coding
OMIM	300382
Entrez	170302

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000379044, ENST00000636609, ENST00000636885, ENST00000637394, ENST00000637993

RefSeq mRNA: 1 — MANE Select: NM_139058 NM_139058

CCDS: CCDS14215

Canonical transcript exons

ENST00000379044 — 5 exons

Exon	Start	End
ENSE00001297998	25007111	25007439
ENSE00001304879	25012922	25013798
ENSE00001317788	25010260	25010305
ENSE00001479586	25003694	25004910
ENSE00001479600	25015542	25015965

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 97.34.

FANTOM5 (CAGE): breadth broad, TPM avg 11.1592 / max 773.5224, expressed in 277 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198760	10.9702	274
198759	0.1317	54
209636	0.0430	23
198761	0.0143	4

Top tissues by expression

249 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	97.34	gold quality
ovary	UBERON:0000992	94.28	gold quality
right ovary	UBERON:0002118	93.36	gold quality
ventricular zone	UBERON:0003053	93.33	gold quality
vastus lateralis	UBERON:0001379	92.69	silver quality
germinal epithelium of ovary	UBERON:0001304	92.54	silver quality
quadriceps femoris	UBERON:0001377	92.20	gold quality
endothelial cell	CL:0000115	90.82	gold quality
bronchial epithelial cell	CL:0002328	87.08	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.07	gold quality
biceps brachii	UBERON:0001507	86.11	gold quality
anterior cingulate cortex	UBERON:0009835	85.73	gold quality
ganglionic eminence	UBERON:0004023	85.68	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	85.46	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.13	gold quality
bronchus	UBERON:0002185	85.00	gold quality
middle temporal gyrus	UBERON:0002771	84.41	gold quality
skeletal muscle tissue	UBERON:0001134	83.99	gold quality
tibialis anterior	UBERON:0001385	83.89	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	83.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	83.10	gold quality
primary visual cortex	UBERON:0002436	83.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.52	gold quality
Brodmann (1909) area 46	UBERON:0006483	82.52	gold quality
right frontal lobe	UBERON:0002810	82.49	gold quality
occipital lobe	UBERON:0002021	81.67	gold quality
entorhinal cortex	UBERON:0002728	80.67	gold quality
deltoid	UBERON:0001476	80.49	silver quality
gastrocnemius	UBERON:0001388	80.36	gold quality
right testis	UBERON:0004534	80.32	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-ENAD-27	yes	112.60
E-MTAB-5061	yes	28.15
E-GEOD-81608	yes	23.27
E-GEOD-83139	yes	13.18
E-GEOD-93593	yes	10.93
E-ANND-3	yes	9.81
E-HCAD-31	yes	5.16

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

30 targets.

Target	Regulation
ACKR3	Activation
ARX
CEL
CHGA
DLX1
EBF3	Repression
EGR1	Activation
ETS2	Activation
GAST
GCG	Activation
GHRL
HMGN3	Repression
IGF1	Activation
KDM5C	Unknown
LGI1
LMO1	Unknown
LMO3	Activation
MEIS1	Activation
PAX4	Unknown
PHLDA1	Activation
PLPP1	Repression
RASGEF1B	Repression
SCT
SHH
SHOX2	Unknown
SLC12A5
SLIT2
SST
TGFB3	Activation
TPM1

Upstream regulators (CollecTRI, top): ARX, DLX2, ISL1, NKX2-2, NKX6-1, PAX4, SHOX2

miRNA regulators (miRDB)

85 targeting ARX, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-3941	99.86	70.54	2735
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Expression is specific to the telencephalon and thalamus. Mutations cause mental retardation without brain malformations. (PMID:11971879)
• data suggest mutations in the ARX gene are important causes of mental retardation, often associated with diverse neurological manifestations (PMID:12142061)
• A new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability in boys (XMESID) has been described and a novel missense mutation (1058C>T) identified in the ARX open reading frame. (PMID:12177367)
• The expression pattern suggests that ARX is involved in the differentiation and maintenance of specific neuronal cell types in the central nervous system. (PMID:12359145)
• ARX plays a role in causing X-linked lissencephaly with abnormal genitalia (PMID:12379852)
• Disruption of the STK9 gene causes severe X-linked infantile spasms and mental retardation. (PMID:12736870)
• 2 point mutations (790delC & R332C) in 2 X-linked lissencephaly with abnormal genitalia pedigrees affect the homeodomain of the protein & confirm that ARX is a causative gene for XLAG. (PMID:12874405)
• A hemizygous 24-bp duplication in exon 2 (441_464dup)results in expansion from 12 to 20 alanine residues (A155_W156insAAAAAAAA) in the second of four polyalanine tracts in the ARX protein, causing West syndrome. (PMID:12874418)
• Thirteen novel mutations found in ARX gene in 20 males with X-linked lissencephaly with abnormal genitalia. (PMID:14722918)
• expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation (PMID:15533998)
• Mutations in the ARX gene can result in many different phenotypes, including phenotypes associated with severe brain malformations and less severe phenotypes associated with syndromic or non-syndromic forms of x-linked mental retadation. (PMID:15707237)
• Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation (ARX) (PMID:15726411)
• Four nonsyndromic XLMR families were found to have a 24 base pair duplication mutation in exon 2 of ARX. (PMID:15850492)
• Results confirm the significant contribution of ARX mutations in the etiology of X-linked mental retardation (XLMR), and imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR. (PMID:16523516)
• These results reinforce the idea that ARX mutations are relevant to mental retardation and are indicative that molecular screening of exon 2 should be considered in males with mental retardation of unknown etiology. (PMID:16845484)
• Activin A has opposite effects on glucagon and arx gene expression in alpha-cells compared with beta-cells, a finding that may have relevance during pancreatic endocrine lineage specification and physiological function of the adult islets (PMID:16988001)
• These findings indicate that mutations in the ARX gene are very rare in autism. (PMID:17044103)
• Features confirm the pleiotropic effect of ARX gene duplication in X-linked mental retardation. (PMID:17082467)
• study underlines the role of ARXdup24 as a critical mutational site causing mental retardation linked to Xp22 (PMID:17480217)
• study showed that the c.304ins(GCG)7 mutation causing an increase from 16 to 23 alanines increased the propensity of ARX protein aggregation and a shift from nuclear to cytoplasmic localization (PMID:17490853)
• Considering genotype-phenotype correlation, we suggest screening of the most common mutation, the c.428_451 dup mutation by PCR, in patients with infantile spasm syndrome, Partington syndrome and non-syndromic X-linked mental retardation. (PMID:17613295)
• This study reports a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation (PMID:17641262)
• The phenotype of infantile spasms with severe dyskinetic quadriparesis increases the number of human disorders that result from the pathologic expansion of single alanine repeats of ARX protein. (PMID:17664401)
• We screened the ARX mutation and found a hemizygous, de novo, 33-bp duplication in exon 2, 298_330dupGCGGCA(GCG)9, in two of three unrelated male patients with EIEE. (PMID:17668384)
• This study report an case of ombination of infantile spasms, non-epileptic seizures and complex movement disorder on the electroclinical features of a 4-year-old boy with an expansion of the trinucleotide repeat in the ARX gene (PMID:18468866)
• Although Arx is necessary for the Dlx-dependent promotion of interneuron migration, it is not required for the GABAergic cell fate commitment mediated by Dlx factors. (PMID:18923043)
• Disorders caused by mutations in the ARX gene include: hydrocephaly, lissencephaly and agenesis of corpus callosum with abnormal genitalia, Partington syndrome S), X-linked infantile spasms , myoclonic epilepsy, and nonspecific mental retardation. (PMID:18975239)
• Results describe three cases of mental retardation in two different families where the mutation in aristaless-related homeobox (ARX) gene c.428_451 dup24 was found while X-fragile syndrome screening was made. (PMID:19085879)
• The first viable knock-in mouse model of infantile spasms syndrome spontaneously recapitulates salient phenotypic features of the human triplet repeat expansion mutation. (PMID:19587282)
• Lissencephaly or mental retardation is caused by ARX mutations without the involvement of other genetic factors. (PMID:19605412)
• ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy (PMID:19734009)
• Findings widen the spectrum of clinical phenotypes because of mutations in the ARX gene, but also emphasize the molecular pathogenetic effect of individual mutations. (PMID:19738637)
• novel frameshift mutations in the terminal exon of the ARX gene (Ala524fsX534 and E536fsX672) were identified in 2 Ohtahara syndrome patients (2 and 13 years, each) from 2 families (PMID:20384723)
• This review aims to provide a catalog of the currently known mutations in ARX and associated clinical phenotypes. (PMID:20506206)
• ARX contributes not only to endocrine development, but also to exocrine development of the human pancreas, and its deficiency may lead to the severe phenotypes of X-linked lissencephaly with abnormal genitalia patients. (PMID:20538404)
• 2 male individuals, born from monozygotic twin sisters, with Ohtahara syndrome that evolved into West syndrome phenotype and epileptic encephalopathy; previously unreported missense mutation in exon 5 of ARX gene (c.1604T>A) was found in both children (PMID:21108397)
• ARX polyA expansions are primarily associated with syndromic mental retardation. (PMID:21204215)
• Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. (PMID:21204226)
• study described a novel ARX mutation in a family, leading to Ohtahara syndrome with abnormal genital and psychomotor development (OAGPD) in a male infant, and neurocognitive/psychiatric phenomena in heterozygous, carrier females (PMID:21426321)
• This study confirmed the pivotal role of the aristaless related homeobox in the pathogenesis of epileptic encephalopathies (PMID:21482751)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arxa	ENSDARG00000058011
danio_rerio	arxb	ENSDARG00000101523
mus_musculus	Arx	ENSMUSG00000035277
rattus_norvegicus	Arx	ENSRNOG00000053562

Paralogs (50): PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)

Protein

Protein identifiers

Homeobox protein ARX — Q96QS3 (reviewed: Q96QS3)

Alternative names: Aristaless-related homeobox

All UniProt accessions (2): Q96QS3, A0A1B0GUI3

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor. Binds to specific sequence motif 5’-TAATTA-3’ in regulatory elements of target genes, such as histone demethylase KDM5C. Positively modulates transcription of KDM5C. Activates expression of KDM5C synergistically with histone lysine demethylase PHF8 and perhaps in competition with transcription regulator ZNF711; synergy may be related to enrichment of histone H3K4me3 in regulatory elements. Required for normal brain development. Plays a role in neuronal proliferation, interneuronal migration and differentiation in the embryonic forebrain. May also be involved in axonal guidance in the floor plate.

Subcellular location. Nucleus.

Tissue specificity. Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.

Disease relevance. Lissencephaly, X-linked 2 (LISX2) [MIM:300215] A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. The disease is caused by variants affecting the gene represented in this entry. Also called X-linked lissencephaly with abnormal genitalia (XLAG). Developmental and epileptic encephalopathy 1 (DEE1) [MIM:308350] A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. The disease is caused by variants affecting the gene represented in this entry. Partington syndrome (PRTS) [MIM:309510] An X-linked developmental disorder characterized by intellectual disability, episodic dystonic hand movements, lower limb spasticity, and dysarthria. The disease is caused by variants affecting the gene represented in this entry. Intellectual developmental disorder, X-linked 29 (XLID29) [MIM:300419] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry. Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004] An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the paired homeobox family. Bicoid subfamily.

RefSeq proteins (1): NP_620689* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR003654	OAR_dom	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR050649	Paired_Homeobox_TFs	Family

Pfam: PF00046, PF03826

UniProt features (25 total): sequence variant 12, compositionally biased region 5, region of interest 3, mutagenesis site 2, chain 1, DNA-binding region 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96QS3-F1	56.51	0.11

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (2):

Position	Phenotype
358	abolishes sequence-specific dna-binding; reduces transcriptional repression of lmo1 and shox2. abolishes transcriptional
379	abolishes sequence-specific dna-binding; reduces transcriptional repression of lmo1 and shox2. abolishes transcriptional

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 523 (showing top): GOBP_FOREBRAIN_NEURON_DEVELOPMENT, GOBP_DIGESTION, GOBP_OLFACTORY_BULB_INTERNEURON_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, TSENG_IRS1_TARGETS_UP, STAEGE_EWING_FAMILY_TUMOR, RORA1_01, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, PEREZ_TP63_TARGETS, GOBP_GROWTH, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, AAAYRNCTG_UNKNOWN, USF_C, GOBP_CELL_PROLIFERATION_IN_FOREBRAIN

GO Biological Process (24): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), axon guidance (GO:0007411), positive regulation of gene expression (GO:0010628), globus pallidus development (GO:0021759), cerebral cortex tangential migration (GO:0021800), embryonic olfactory bulb interneuron precursor migration (GO:0021831), cell proliferation in forebrain (GO:0021846), cerebral cortex GABAergic interneuron migration (GO:0021853), organ growth (GO:0035265), lipid digestion (GO:0044241), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of organ growth (GO:0046622), neuron fate commitment (GO:0048663), neuron development (GO:0048666), regulation of epithelial cell proliferation (GO:0050678), epithelial cell fate commitment (GO:0072148), neuron migration (GO:0001764), regulation of DNA-templated transcription (GO:0006355), nervous system development (GO:0007399), olfactory bulb development (GO:0021772), cell differentiation (GO:0030154), forebrain development (GO:0030900), interneuron migration (GO:1904936)

GO Molecular Function (9): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
regulation of gene expression	2
neuron differentiation	2
cell fate commitment	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
binding	2
negative regulation of DNA-templated transcription	1
regulation of DNA-templated transcription	1
axonogenesis	1
neuron projection guidance	1
gene expression	1
positive regulation of macromolecule biosynthetic process	1
diencephalon development	1
neural nucleus development	1
cerebral cortex cell migration	1
substrate-independent telencephalic tangential interneuron migration	1
olfactory bulb interneuron development	1
tangential migration from the subventricular zone to the olfactory bulb	1
forebrain development	1
neural precursor cell proliferation	1
interneuron migration from the subpallium to the cortex	1
cerebral cortex GABAergic interneuron development	1
interneuron migration	1
multicellular organismal process	1
developmental growth	1
digestion	1
positive regulation of DNA-templated transcription	1
organ growth	1
regulation of organ growth	1
positive regulation of developmental growth	1
positive regulation of multicellular organismal process	1
cell development	1
regulation of cell population proliferation	1
epithelial cell proliferation	1
epithelial cell differentiation	1
cell migration	1
generation of neurons	1
DNA-templated transcription	1

Protein interactions and networks

STRING

710 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARX	PCDH19	Q8TAB3	818
ARX	CDKL5	O76039	804
ARX	STXBP1	P61764	799
ARX	SLC25A22	Q9H936	781
ARX	PNKP	Q96T60	751
ARX	SCN1A	P35498	750
ARX	IPO13	O94829	730
ARX	SPTAN1	Q13813	722
ARX	ARHGEF9	O43307	682
ARX	VCX3B	Q9H321	670
ARX	PLCB1	Q9NQ66	668
ARX	POLA1	P09884	668
ARX	VCX	Q9H320	648
ARX	VCX2	Q9H322	647
ARX	LMO1	P25800	638

IntAct

19 interactions, top by confidence:

A	B	Type	Score
PHF8	ARX	psi-mi:“MI:0915”(physical association)	0.520
ACTN1	ARX	psi-mi:“MI:0915”(physical association)	0.510
PICK1	ARX	psi-mi:“MI:0915”(physical association)	0.510
	ARX	psi-mi:“MI:0915”(physical association)	0.370
ACTN2	ARX	psi-mi:“MI:0915”(physical association)	0.370
TLE5	ARX	psi-mi:“MI:0915”(physical association)	0.370
CYTIP	ARX	psi-mi:“MI:0915”(physical association)	0.370
DNM2	ARX	psi-mi:“MI:0915”(physical association)	0.370
IPO13	ARX	psi-mi:“MI:0915”(physical association)	0.370
NELL2	ARX	psi-mi:“MI:0915”(physical association)	0.370
PKM	ARX	psi-mi:“MI:0915”(physical association)	0.370
SETD2	ARX	psi-mi:“MI:0915”(physical association)	0.370
ARX	MIGA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (29): AP2A1 (Affinity Capture-MS), APOB (Affinity Capture-MS), CLTA (Affinity Capture-MS), CLTB (Affinity Capture-MS), CLTC (Affinity Capture-MS), PIK3C2A (Affinity Capture-MS), RBM4 (Affinity Capture-MS), CLINT1 (Affinity Capture-MS), SEC16A (Affinity Capture-MS), TACC3 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), STK39 (Affinity Capture-MS), GTSE1 (Affinity Capture-MS), KLC2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS)

ESM2 similar proteins: A2A9A2, A6QQ94, A6YP92, A7MB54, B5RHS5, E9PZZ1, M0R6D8, O02786, O08934, O09029, O35085, P13297, P28360, P46153, P50548, P78413, P78414, P78415, P81067, P81068, P84550, P97830, Q12952, Q13207, Q14549, Q14774, Q2VL76, Q2VL77, Q2VL78, Q2VL79, Q2VL80, Q2VL82, Q2VL83, Q2VL84, Q2VL85, Q2VL86, Q2VL87, Q2VL88, Q2VWA4, Q5SQQ9

Diamond homologs: A1A546, A1YEV8, A1YG25, A2T711, A6NJT0, A6NNA5, A6YP92, G5EC89, G5EDS1, L8E946, O08934, O09113, O14813, O15266, O18381, O35085, O35137, O35602, O35690, O35750, O42115, O42201, O42250, O42356, O42357, O42358, O42477, O42567, O60902, O70137, O73917, O95076, O97039, P0DMV5, P23759, P23760, P24610, P26367, P26630, P29506

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ARX	“down-regulates quantity by repression”	EBF3	“transcriptional regulation”
DLX2	“up-regulates quantity by expression”	ARX	“transcriptional regulation”
PRKCA	“up-regulates activity”	ARX	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

978 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	105
Likely pathogenic	26
Uncertain significance	371
Likely benign	359
Benign	18

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1074175	NM_139058.3(ARX):c.1443dup (p.Gly482fs)	Pathogenic
11188	NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)	Pathogenic
11189	NM_139058.3(ARX):c.1449-816_*460del	Pathogenic
11192	NM_139058.3(ARX):c.995G>A (p.Arg332His)	Pathogenic
11193	NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)	Pathogenic
11195	NG_008281.1:g.(?4983)(8028_10643)del	Pathogenic
11197	NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)	Pathogenic
11198	NM_139058.3(ARX):c.98T>C (p.Leu33Pro)	Pathogenic
11200	NM_139058.3(ARX):c.998C>A (p.Thr333Asn)	Pathogenic
11201	NM_139058.3(ARX):c.1105G>T (p.Glu369Ter)	Pathogenic
11202	NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)	Pathogenic
11205	NM_139058.3(ARX):c.232G>T (p.Glu78Ter)	Pathogenic
1164076	NM_139058.3(ARX):c.1406_1415del (p.Ala469fs)	Pathogenic
1172770	NM_139058.3(ARX):c.947del (p.Gly316fs)	Pathogenic
1299655	NM_139058.3(ARX):c.1472del (p.Leu491fs)	Pathogenic
1374869	NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)	Pathogenic
1410535	NM_139058.3(ARX):c.642_645del (p.Pro215fs)	Pathogenic
1434577	NM_139058.3(ARX):c.1120-2A>G	Pathogenic
1526401	NM_139058.3(ARX):c.26dup (p.Cys10fs)	Pathogenic
156619	NM_139058.3(ARX):c.1141G>A (p.Ala381Thr)	Pathogenic
157739	NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	Pathogenic
157744	NM_139058.3(ARX):c.1372del (p.Ala458fs)	Pathogenic
157746	NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)	Pathogenic
157748	NM_139058.3(ARX):c.1465del (p.Ala489fs)	Pathogenic
157749	NM_139058.3(ARX):c.1544del (p.Gly515fs)	Pathogenic
157750	NM_139058.3(ARX):c.172del (p.Ala58fs)	Pathogenic
157756	NM_139058.3(ARX):c.335_368del (p.Ala112fs)	Pathogenic
157757	NM_139058.3(ARX):c.34G>T (p.Glu12Ter)	Pathogenic
157759	NM_139058.3(ARX):c.617del (p.Gly206fs)	Pathogenic
157765	NM_139058.3(ARX):c.995G>T (p.Arg332Leu)	Pathogenic

SpliceAI

873 predictions. Top by Δscore:

Variant	Effect	Δscore
X:25010254:GCTCA:G	donor_loss	1.0000
X:25010256:TCA:T	donor_loss	1.0000
X:25010258:A:C	donor_loss	1.0000
X:25015536:CCTTA:C	donor_loss	1.0000
X:25015537:CTTA:C	donor_loss	1.0000
X:25015538:TTAC:T	donor_loss	1.0000
X:25015539:TA:T	donor_loss	1.0000
X:25015540:A:AC	donor_gain	1.0000
X:25015540:A:T	donor_loss	1.0000
X:25015541:C:CC	donor_gain	1.0000
X:25015541:C:CG	donor_loss	1.0000
X:25007113:G:A	donor_gain	0.9900
X:25010301:CCTCC:C	acceptor_gain	0.9900
X:25010302:CTCCC:C	acceptor_gain	0.9900
X:25010303:TCCCT:T	acceptor_gain	0.9900
X:25010304:CC:C	acceptor_gain	0.9900
X:25010305:CCTA:C	acceptor_gain	0.9900
X:25010306:C:CA	acceptor_loss	0.9900
X:25010306:C:CC	acceptor_gain	0.9900
X:25010307:T:C	acceptor_loss	0.9900
X:25012917:CATA:C	donor_loss	0.9900
X:25012918:ATACC:A	donor_loss	0.9900
X:25012919:TA:T	donor_loss	0.9900
X:25012920:ACCT:A	donor_loss	0.9900
X:25014562:T:TA	donor_gain	0.9900
X:25014802:T:A	donor_gain	0.9900
X:25015540:AC:A	donor_gain	0.9900
X:25015541:CC:C	donor_gain	0.9900
X:25015541:CCTTG:C	donor_gain	0.9900
X:25004909:GCCTG:G	acceptor_loss	0.9800

AlphaMissense

3585 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:25004743:G:T	A539D	1.000
X:25004744:C:G	A539P	1.000
X:25004749:A:G	L537P	1.000
X:25004751:C:A	R536S	1.000
X:25004751:C:G	R536S	1.000
X:25004752:C:A	R536M	1.000
X:25004752:C:G	R536T	1.000
X:25004755:A:G	L535P	1.000
X:25004755:A:T	L535Q	1.000
X:25004764:A:C	I532R	1.000
X:25004764:A:G	I532T	1.000
X:25004764:A:T	I532K	1.000
X:25004766:G:C	S531R	1.000
X:25004766:G:T	S531R	1.000
X:25004767:C:A	S531I	1.000
X:25004768:T:G	S531R	1.000
X:25007404:C:A	K385N	1.000
X:25007404:C:G	K385N	1.000
X:25007405:T:A	K385M	1.000
X:25007406:T:C	K385E	1.000
X:25007408:C:G	R384P	1.000
X:25007409:G:A	R384C	1.000
X:25007409:G:T	R384S	1.000
X:25007410:C:A	W383C	1.000
X:25007410:C:G	W383C	1.000
X:25007412:A:G	W383R	1.000
X:25007412:A:T	W383R	1.000
X:25007413:C:A	K382N	1.000
X:25007413:C:G	K382N	1.000
X:25007414:T:A	K382M	1.000

dbSNP variants (sampled 300 via entrez): RS1000074971 (X:25006584 G>A,T), RS1000106379 (X:25014422 G>A), RS1000498226 (X:25012086 G>A), RS1000954674 (X:25011689 T>C), RS1001362221 (X:25012821 A>G), RS1001384484 (X:25005315 G>A), RS1002214533 (X:25003487 A>C), RS1002515777 (X:25007824 T>C), RS1002648579 (X:25011436 C>T), RS1002662680 (X:25017511 C>T), RS1003146115 (X:25017903 G>A,C), RS1003424363 (X:25011166 G>A), RS1003856468 (X:25005417 C>A), RS1003885772 (X:25015283 T>C), RS1003997021 (X:25011419 T>C)

Disease associations

OMIM: gene MIM:300382 | disease phenotypes: MIM:300419, MIM:308350, MIM:217990, MIM:309510, MIM:300004, MIM:300215, MIM:209850, MIM:613154, MIM:304050

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, X-linked, with or without seizures, ARX-related	Definitive	X-linked
X-linked complex neurodevelopmental disorder	Definitive	X-linked
X-linked lissencephaly with abnormal genitalia	Strong	X-linked
neurodevelopmental disorder	Strong	X-linked
developmental and epileptic encephalopathy, 1	Strong	X-linked
genetic developmental and epileptic encephalopathy	Supportive	Autosomal dominant
corpus callosum agenesis-abnormal genitalia syndrome	Supportive	X-linked
X-linked spasticity-intellectual disability-epilepsy syndrome	Supportive	X-linked
infantile spasms	Supportive	Autosomal dominant
infantile epileptic-dyskinetic encephalopathy	Supportive	X-linked
non-syndromic X-linked intellectual disability	Supportive	X-linked
Partington syndrome	Supportive	X-linked

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Definitive	XL
X-linked complex neurodevelopmental disorder	Definitive	XL

Mondo (18): intellectual disability, X-linked, with or without seizures, ARX-related (MONDO:0010317), developmental and epileptic encephalopathy, 1 (MONDO:0010632), arachnoid cyst (MONDO:0008813), corpus callosum, agenesis of (MONDO:0009022), Partington syndrome (MONDO:0010654), corpus callosum agenesis-abnormal genitalia syndrome (MONDO:0010224), X-linked lissencephaly with abnormal genitalia (MONDO:0010268), X-linked spasticity-intellectual disability-epilepsy syndrome (MONDO:0017856), autism (MONDO:0005260), intellectual disability (MONDO:0001071), muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 (MONDO:0013158), Aicardi syndrome (MONDO:0010568), X-linked complex neurodevelopmental disorder (MONDO:0100148), genetic developmental and epileptic encephalopathy (MONDO:0100062), infantile spasms (MONDO:0018097)

Orphanet (12): X-linked non-syndromic intellectual disability (Orphanet:777), Isolated corpus callosum agenesis (Orphanet:200), Arachnoid cyst (Orphanet:2356), Partington syndrome (Orphanet:94083), Corpus callosum agenesis-abnormal genitalia syndrome (Orphanet:2508), X-linked lissencephaly with abnormal genitalia (Orphanet:452), X-linked spasticity-intellectual disability-epilepsy syndrome (Orphanet:3175), ARX-related epileptic encephalopathy (Orphanet:182079), Muscle-eye-brain disease (Orphanet:588), Walker-Warburg syndrome (Orphanet:899), Aicardi syndrome (Orphanet:50), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

169 total (30 of 169 shown, HPO-id order):

HPO	Term
HP:0000020	Urinary incontinence
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000053	Macroorchidism
HP:0000054	Micropenis
HP:0000062	Ambiguous genitalia
HP:0000070	Ureterocele
HP:0000110	Renal dysplasia
HP:0000175	Cleft palate
HP:0000187	Broad alveolar ridges
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000260	Wide anterior fontanel
HP:0000280	Coarse facial features
HP:0000294	Low anterior hairline
HP:0000325	Triangular face
HP:0000336	Prominent supraorbital ridges
HP:0000340	Sloping forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000486	Strabismus

GWAS associations

0 associations (top):

MeSH disease descriptors (11)

Descriptor	Name	Tree numbers
D061085	Agenesis of Corpus Callosum	C10.500.034; C16.131.666.034; C23.300.008
D058540	Aicardi Syndrome	C10.500.034.687; C11.270.019; C16.131.162; C16.131.666.034.687; C16.320.290.019; C16.320.322.030
D016080	Arachnoid Cysts	C04.182.044; C04.588.614.250.387.100; C10.500.142.100; C10.551.240.375.100; C16.131.666.142.100
D001321	Autistic Disorder	F03.625.164.113.500
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
C567924	Infantile Epileptic-Dyskinetic Encephalopathy (supp.)
C564563	Lissencephaly, X-Linked, 2 (supp.)
C564490	Mental Retardation, X-Linked Nonsyndromic (supp.)
C563150	Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (supp.)
C563110	Proud Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation, affects cotreatment, decreases expression	8
trichostatin A	affects cotreatment, decreases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases methylation	1
arsenite	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arbutin	decreases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	increases phosphorylation	1
Camptothecin	increases expression	1
Cisplatin	decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1

Cellosaurus cell lines

5 cell lines: 3 induced pluripotent stem cell, 1 transformed cell line, 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A7IQ	SHCDNi005-A	Induced pluripotent stem cell	Male
CVCL_A8MU	OGHFUi001-A	Induced pluripotent stem cell	Male
CVCL_C0CK	OGHFUi001-A-1	Induced pluripotent stem cell	Male
CVCL_C0LF	GM28075	Transformed cell line	Male
CVCL_C1W6	SCSe001-A-4	Embryonic stem cell	Male

Clinical trials (associated diseases)

538 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01413711	PHASE4	WITHDRAWN	An Open-Label, Single and Multiple Oral Dose Pharmacokinetic Study of Vigabatrin in Infants With Infantile Spasms
NCT02092883	PHASE4	COMPLETED	Evaluation of Neuroinflammation in Children With Infantile Spasms
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT01575639	PHASE3	COMPLETED	Prednisolone in Infantile Spasms- High Dose Versus Usual Dose
NCT01828437	PHASE3	COMPLETED	Addition of Pyridoxine to Prednisolone in Infantile Spasms
NCT02299115	PHASE3	WITHDRAWN	Prednisolone Versus Vigabatrin in the First-line Treatment of Infantile Spasms
NCT02953548	PHASE3	COMPLETED	Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)
NCT02954887	PHASE3	COMPLETED	Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)