ARFGEF3

Summary

ARFGEF3 (ARFGEF family member 3, HGNC:21213) is a protein-coding gene on chromosome 6q23.3-q24.1, encoding Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (Q5TH69). Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells.

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of ARF protein signal transduction. Predicted to be located in transport vesicle membrane.

Source: NCBI Gene 57221 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited dystonia (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 373 total — 1 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_020340

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21213
Approved symbol	ARFGEF3
Name	ARFGEF family member 3
Location	6q23.3-q24.1
Locus type	gene with protein product
Status	Approved
Aliases	dJ171N11.1, BIG3, PPP1R33
Ensembl gene	ENSG00000112379
Ensembl biotype	protein_coding
OMIM	617411
Entrez	57221

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000251691, ENST00000895851

RefSeq mRNA: 1 — MANE Select: NM_020340 NM_020340

CCDS: CCDS5189

Canonical transcript exons

ENST00000251691 — 34 exons

Exon	Start	End
ENSE00000764592	138278451	138278617
ENSE00000764602	138279999	138280164
ENSE00000764604	138286701	138286916
ENSE00000764612	138287074	138287184
ENSE00000764626	138289818	138289968
ENSE00000764631	138296810	138296955
ENSE00000764638	138308739	138308861
ENSE00000764639	138311407	138311510
ENSE00000764643	138319703	138319879
ENSE00000764647	138324023	138324154
ENSE00000798933	138262701	138263611
ENSE00000798934	138285946	138286053
ENSE00000798935	138291733	138292053
ENSE00000798936	138293993	138294126
ENSE00000798937	138298606	138298785
ENSE00000798938	138307253	138307397
ENSE00000798939	138313795	138313939
ENSE00000798940	138317251	138317379
ENSE00000798941	138321111	138321225
ENSE00000798942	138323671	138323773
ENSE00000798943	138328021	138328142
ENSE00000798944	138333970	138335188
ENSE00001363571	138261527	138261639
ENSE00001363579	138255436	138255769
ENSE00001364931	138245513	138245591
ENSE00001367198	138242952	138242994
ENSE00001373287	138238509	138238631
ENSE00001381692	138253880	138253984
ENSE00001386605	138209910	138210041
ENSE00001389298	138229784	138229852
ENSE00001813154	138161939	138162171
ENSE00001841691	138336295	138344663
ENSE00002215616	138170662	138170713
ENSE00002313548	138207042	138207123

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 98.37.

FANTOM5 (CAGE): breadth broad, TPM avg 6.0519 / max 180.4164, expressed in 868 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70106	5.2777	815
70105	0.6163	278
70104	0.1579	78

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.37	gold quality
cerebellar vermis	UBERON:0004720	97.39	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.79	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.24	gold quality
substantia nigra pars compacta	UBERON:0001965	95.03	gold quality
lateral globus pallidus	UBERON:0002476	94.83	gold quality
globus pallidus	UBERON:0001875	94.63	gold quality
medial globus pallidus	UBERON:0002477	94.60	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.52	gold quality
endothelial cell	CL:0000115	94.37	gold quality
bronchial epithelial cell	CL:0002328	94.36	gold quality
nasal cavity epithelium	UBERON:0005384	93.83	silver quality
bronchus	UBERON:0002185	93.81	gold quality
middle temporal gyrus	UBERON:0002771	93.73	gold quality
subthalamic nucleus	UBERON:0001906	93.37	gold quality
dorsal plus ventral thalamus	UBERON:0001897	93.12	gold quality
inferior vagus X ganglion	UBERON:0005363	92.69	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.32	gold quality
pons	UBERON:0000988	92.02	gold quality
entorhinal cortex	UBERON:0002728	91.01	gold quality
corpus callosum	UBERON:0002336	90.99	gold quality
superior vestibular nucleus	UBERON:0007227	90.98	gold quality
parietal lobe	UBERON:0001872	90.95	gold quality
islet of Langerhans	UBERON:0000006	90.94	gold quality
medulla oblongata	UBERON:0001896	90.59	gold quality
postcentral gyrus	UBERON:0002581	90.52	gold quality
ventral tegmental area	UBERON:0002691	90.48	gold quality
epithelial cell of pancreas	CL:0000083	89.91	silver quality
superior frontal gyrus	UBERON:0002661	89.78	gold quality
ileal mucosa	UBERON:0000331	89.31	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	780.53
E-CURD-114	yes	45.60
E-GEOD-81547	yes	27.40
E-ANND-3	yes	22.37
E-GEOD-83139	yes	9.81
E-GEOD-99795	no	287.90
E-GEOD-81608	no	13.97
E-ENAD-27	no	9.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

355 targeting ARFGEF3, 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-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4775	99.98	75.00	6394

Literature-anchored findings (GeneRIF, showing 3)

• BIG3 (ARFGEF3) is predicted to interact with its partner PHB2 through an ARM-type alpha-helical structure. (PMID:24997568)
• These results establish a model for the BIG3-PHB2 interaction and an entry for drug discovery for breast cancer. (PMID:31421830)
• The survival and proliferation of osteosarcoma cells are dependent on the mitochondrial BIG3-PHB2 complex formation. (PMID:34363714)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	arfgef3	ENSDARG00000077656
mus_musculus	Arfgef3	ENSMUSG00000019852
rattus_norvegicus	Arfgef3	ENSRNOG00000011460

Protein

Protein identifiers

Brefeldin A-inhibited guanine nucleotide-exchange protein 3 — Q5TH69 (reviewed: Q5TH69)

Alternative names: ARFGEF family member 3

All UniProt accessions (1): Q5TH69

UniProt curated annotations — full annotation on UniProt →

Function. Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells. Also regulates glucagon granule production in pancreatic alpha cells. Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells.

Subunit / interactions. Interacts with PHB2.

Subcellular location. Cytoplasm. Cytoplasmic vesicle. Secretory vesicle. Secretory vesicle membrane.

Tissue specificity. Expressed in breast cancer cell lines. Not expressed in normal tissues such as duct, mammary gland, lung, heart, liver, kidnay, bone marrow.

RefSeq proteins (1): NP_065073* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000904	Sec7_dom	Domain
IPR015403	Mon2/Sec7/BIG1-like_HDS	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR032629	DCB_dom	Domain
IPR046455	Sec7/BIG1-like_C	Domain

Pfam: PF09324, PF16213, PF20252

UniProt features (34 total): modified residue 10, region of interest 8, compositionally biased region 7, sequence variant 4, sequence conflict 2, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TH69-F1	65.15	0.08

Functional residue map

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

Post-translational modifications (10): 471, 632, 636, 1049, 1991, 2079, 2081, 2095, 2101, 2103

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GTGCCTT_MIR506, KOYAMA_SEMA3B_TARGETS_UP, BILD_E2F3_ONCOGENIC_SIGNATURE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, COATES_MACROPHAGE_M1_VS_M2_UP, LIAO_METASTASIS, CUI_TCF21_TARGETS_2_DN, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, TGCCTTA_MIR124A, LIU_SOX4_TARGETS_DN

GO Biological Process (1): regulation of ARF protein signal transduction (GO:0032012)

GO Molecular Function (1): guanyl-nucleotide exchange factor activity (GO:0005085)

GO Cellular Component (5): transport vesicle membrane (GO:0030658), cytoplasm (GO:0005737), membrane (GO:0016020), transport vesicle (GO:0030133), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
ARF protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
transport vesicle	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

568 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARFGEF3	PHB2	Q99623	863
ARFGEF3	TMEM253	P0C7T8	541
ARFGEF3	CCDC167	Q9P0B6	508
ARFGEF3	LRRTM4	Q86VH4	479
ARFGEF3	DRG2	P55039	449
ARFGEF3	ORC5	O43913	429
ARFGEF3	CHMP7	Q8WUX9	424
ARFGEF3	KCNH7	Q9NS40	423
ARFGEF3	EAPP	Q56P03	414
ARFGEF3	PKIA	P04541	407
ARFGEF3	PHACTR2	O75167	393
ARFGEF3	ASB14	A6NK59	391
ARFGEF3	SERPINI2	O75830	389
ARFGEF3	PSIP1	O75475	362
ARFGEF3	PITPNC1	Q9UKF7	354

IntAct

64 interactions, top by confidence:

A	B	Type	Score
LPAR4	POTEF	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
AP4E1	AP4M1	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
PPP1CA	ARFGEF3	psi-mi:“MI:0407”(direct interaction)	0.440
TNFSF13B	HEATR1	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	KIAA1324L	psi-mi:“MI:0914”(association)	0.350
PACC1	DEGS1	psi-mi:“MI:0914”(association)	0.350
PNKD	EXOC5	psi-mi:“MI:0914”(association)	0.350
VIPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
ST6GAL1	HLA-C	psi-mi:“MI:0914”(association)	0.350
CTDP1	ESYT2	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
KLK15	DENND11	psi-mi:“MI:0914”(association)	0.350
P2RY10	POTEF	psi-mi:“MI:0914”(association)	0.350
TACSTD2	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SIGLECL1	RBFOX3	psi-mi:“MI:0914”(association)	0.350
GPR182	METTL15	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
FPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
FIS1	QSOX1	psi-mi:“MI:0914”(association)	0.350
TACR3	TCAF2	psi-mi:“MI:0914”(association)	0.350
CD40	NHERF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (123): KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Biochemical Activity), KIAA1244 (Proximity Label-MS), KIAA1244 (Proximity Label-MS), KIAA1244 (Proximity Label-MS), PHB2 (Affinity Capture-Western), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS)

ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A0JMA8, A1A535, A1A5P5, A1L1K1, A2AVJ5, A7YDW0, B3MJV4, B4MV81, O00443, O08576, O17237, Q0V9V7, Q12923, Q14D04, Q17QK1, Q1LYM3, Q2NKQ1, Q3UGY8, Q59EK9, Q5EB20, Q5JWR5, Q5PQS3, Q5R565, Q5RAY1, Q5TH69, Q5U245, Q5U3W3, Q5XHG1, Q61194, Q61QK6, Q64512, Q6ING4, Q6MZQ0, Q6ZUJ8, Q7Z3E5, Q803Q4, Q80U12, Q8BPQ7

Diamond homologs: Q3UGY8, Q5TH69

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	281
Likely benign	35
Benign	29

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
830783	NC_000006.12:g.(?137871228)(138263611_?)del	Pathogenic

SpliceAI

4866 predictions. Top by Δscore:

Variant	Effect	Δscore
6:138162151:A:T	donor_gain	1.0000
6:138162169:TGGG:T	donor_loss	1.0000
6:138162170:GG:G	donor_gain	1.0000
6:138162170:GGGT:G	donor_loss	1.0000
6:138162171:GG:G	donor_gain	1.0000
6:138162171:GGTA:G	donor_loss	1.0000
6:138162172:G:C	donor_loss	1.0000
6:138162172:G:GG	donor_gain	1.0000
6:138162173:T:G	donor_loss	1.0000
6:138207037:GCCAG:G	acceptor_loss	1.0000
6:138207040:A:AG	acceptor_gain	1.0000
6:138207040:A:T	acceptor_loss	1.0000
6:138207040:AG:A	acceptor_gain	1.0000
6:138207041:G:GC	acceptor_gain	1.0000
6:138207041:GG:G	acceptor_gain	1.0000
6:138207041:GGGA:G	acceptor_gain	1.0000
6:138207121:CAGGT:C	donor_loss	1.0000
6:138207122:AGG:A	donor_loss	1.0000
6:138207123:GGTAT:G	donor_loss	1.0000
6:138207124:G:A	donor_loss	1.0000
6:138207125:T:G	donor_loss	1.0000
6:138209904:TTACA:T	acceptor_loss	1.0000
6:138209905:TACA:T	acceptor_loss	1.0000
6:138209908:A:AG	acceptor_gain	1.0000
6:138209908:AG:A	acceptor_loss	1.0000
6:138209909:G:A	acceptor_loss	1.0000
6:138209909:G:GG	acceptor_gain	1.0000
6:138209909:GA:G	acceptor_gain	1.0000
6:138209909:GAA:G	acceptor_gain	1.0000
6:138210030:G:GT	donor_gain	1.0000

AlphaMissense

14323 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:138238561:C:A	A158D	0.999
6:138238576:T:C	L163P	0.999
6:138255651:T:C	L329P	0.999
6:138280056:T:A	W785R	0.999
6:138280056:T:C	W785R	0.999
6:138286871:A:C	S914R	0.999
6:138286873:C:A	S914R	0.999
6:138286873:C:G	S914R	0.999
6:138289952:T:A	W1011R	0.999
6:138289952:T:C	W1011R	0.999
6:138289954:G:C	W1011C	0.999
6:138289954:G:T	W1011C	0.999
6:138307310:T:A	W1296R	0.999
6:138307310:T:C	W1296R	0.999
6:138317265:T:A	W1454R	0.999
6:138317265:T:C	W1454R	0.999
6:138317287:T:C	L1461P	0.999
6:138319759:T:A	W1511R	0.999
6:138319759:T:C	W1511R	0.999
6:138319818:G:C	K1530N	0.999
6:138319818:G:T	K1530N	0.999
6:138319829:G:A	G1534D	0.999
6:138319844:T:C	L1539P	0.999
6:138321209:G:C	G1584R	0.999
6:138323714:T:A	W1604R	0.999
6:138323714:T:C	W1604R	0.999
6:138323716:G:C	W1604C	0.999
6:138323716:G:T	W1604C	0.999
6:138328025:T:C	F1669S	0.999
6:138333999:T:C	L1718P	0.999

dbSNP variants (sampled 300 via entrez): RS1000025222 (6:138163096 C>T), RS1000031538 (6:138175747 G>A), RS1000063871 (6:138287572 G>A), RS1000072328 (6:138225075 C>A,T), RS1000082163 (6:138293431 T>A), RS1000087118 (6:138306093 G>A), RS1000102856 (6:138240756 T>C), RS1000115036 (6:138306434 G>T), RS1000120929 (6:138322489 A>G), RS1000132014 (6:138182838 G>C), RS1000162495 (6:138269929 C>T), RS1000169917 (6:138334740 A>G), RS1000171293 (6:138289714 C>G), RS1000175119 (6:138330672 A>G), RS1000179057 (6:138250272 G>A)

Disease associations

OMIM: gene MIM:617411 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
inherited dystonia	Strong	Autosomal dominant

Mondo (3): dystonic disorder (MONDO:0003441), neurodevelopmental disorder (MONDO:0700092), inherited dystonia (MONDO:0044807)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001332	Dystonia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_1745	Metabolite levels	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010348	cholesteryl ester 20:4 measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020821	Dystonic Disorders	C10.228.662.300
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs143276236	ARFGEF3		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
Panobinostat	affects cotreatment, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
sotorasib	affects cotreatment, decreases expression	1
trichostatin A	decreases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Caffeine	affects phosphorylation	1
Calcitriol	increases expression	1
Catechin	affects cotreatment, increases expression	1
Cisplatin	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SU63	HAP1 KIAA1244 (-) 1	Cancer cell line	Male
CVCL_SU64	HAP1 KIAA1244 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00142259	PHASE4	UNKNOWN	Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02263417	PHASE4	COMPLETED	A Randomized Controlled Trail Comparing Subthalamic and Pallidal Deep Brain Stimulation for Dystonia
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,
NCT00169403	PHASE3	UNKNOWN	Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia
NCT03232320	PHASE3	COMPLETED	Meditoxin® Treatment in Patients With Cervical Dystonia
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00001784	PHASE2	COMPLETED	Mexiletine for the Treatment of Focal Dystonia
NCT00105430	PHASE2	COMPLETED	Deep Brain Stimulation for Cervical Dystonia
NCT00106782	PHASE2	COMPLETED	Transcranial Electrical Polarization to Treat Focal Hand Dystonia
NCT00122044	PHASE2	COMPLETED	Childhood Hypertonia of Central Origin: A Trial of Anticholinergic Treatment Effects
NCT00169338	PHASE2	COMPLETED	Pallidal Stimulation in Patients With Post-anoxic and Idiopathic Dystonia
NCT00331669	PHASE2	UNKNOWN	Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT02107261	PHASE2	COMPLETED	Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician’s Hand
NCT02470325	PHASE2	UNKNOWN	The Effects of Cannabis on Dystonia and Spasticity on Pediatric Patients
NCT05027997	PHASE2	COMPLETED	Exploratory Study of Dipraglurant (ADX48621) for the Treatment of Patients With Blepharospasm
NCT06412653	PHASE2	COMPLETED	Prospective Pilot Trial to Address Feasibility and Safety of Oral Zinc in GNAO1 Associated Disorders
NCT07304089	PHASE2	RECRUITING	A Study to Evaluate the Efficacy, Safety, and Tolerability of VIM0423 in Individuals With Isolated Dystonia
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT01433757	PHASE1	COMPLETED	Ampicillin for DYT-1 Dystonia Motor Symptoms
NCT01698450	PHASE1	COMPLETED	Magnetic Resonance (MR) Guided Functional Ultrasound-Neurosurgery for Movement Disorders
NCT02982304	PHASE1	UNKNOWN	Multi-Target Pallidal and Thalamic Deep Brain Stimulation for Hemi-Dystonia
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT06554288	PHASE1	RECRUITING	Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT00004421	PHASE2/PHASE3	COMPLETED	Deep Brain Stimulation in Treating Patients With Dystonia
NCT00272246	PHASE2/PHASE3	UNKNOWN	Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia
NCT00608231	PHASE2/PHASE3	WITHDRAWN	Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation
NCT04277247	PHASE2/PHASE3	UNKNOWN	Botulinum Toxin Type A for Foot Dystonia-associated Pain in Parkinson’s Disease
NCT02015039	PHASE1/PHASE2	COMPLETED	Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer’s Cramp
NCT02911103	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Deep Brain Stimulation Surgery for Focal Hand Dystonia