PIGP

Summary

PIGP (phosphatidylinositol glycan anchor biosynthesis class P, HGNC:3046) is a protein-coding gene on chromosome 21q22.13, encoding Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (P57054). Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 51227 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy, 55 (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 145 total
• Phenotypes (HPO): 79
• MANE Select transcript: NM_153682

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3046
Approved symbol	PIGP
Name	phosphatidylinositol glycan anchor biosynthesis class P
Location	21q22.13
Locus type	gene with protein product
Status	Approved
Aliases	DCRC, DSRC
Ensembl gene	ENSG00000185808
Ensembl biotype	protein_coding
OMIM	605938
Entrez	51227

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 14 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000329667, ENST00000360525, ENST00000399098, ENST00000399102, ENST00000399103, ENST00000430792, ENST00000464265, ENST00000479152, ENST00000886954, ENST00000886955, ENST00000886956, ENST00000886957, ENST00000886958, ENST00000886959, ENST00000921681, ENST00000921682

RefSeq mRNA: 4 — MANE Select: NM_153682 NM_001320480, NM_016430, NM_153681, NM_153682

CCDS: CCDS13649, CCDS13650, CCDS82670

Canonical transcript exons

ENST00000360525 — 5 exons

Exon	Start	End
ENSE00001419804	37073000	37073071
ENSE00003468709	37067262	37067380
ENSE00003470276	37072434	37072537
ENSE00003526634	37065374	37065712
ENSE00003788488	37069552	37069624

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.4746 / max 122.9984, expressed in 1812 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190386	18.3033	1793
190388	1.7205	882
190384	1.5294	1003
190382	1.0293	593
190383	0.7944	483
190385	0.5318	275
190387	0.4042	200
190381	0.1617	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	98.58	gold quality
adrenal tissue	UBERON:0018303	96.60	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.45	gold quality
biceps brachii	UBERON:0001507	96.36	gold quality
adult organism	UBERON:0007023	96.05	gold quality
cauda epididymis	UBERON:0004360	95.79	gold quality
diaphragm	UBERON:0001103	95.52	gold quality
myocardium	UBERON:0002349	95.50	gold quality
pigmented layer of retina	UBERON:0001782	95.41	gold quality
vastus lateralis	UBERON:0001379	95.40	gold quality
caput epididymis	UBERON:0004358	95.39	gold quality
bronchial epithelial cell	CL:0002328	95.35	gold quality
quadriceps femoris	UBERON:0001377	95.35	gold quality
left ventricle myocardium	UBERON:0006566	95.32	gold quality
heart right ventricle	UBERON:0002080	95.17	gold quality
right adrenal gland cortex	UBERON:0035827	94.95	gold quality
right adrenal gland	UBERON:0001233	94.88	gold quality
deltoid	UBERON:0001476	94.88	gold quality
islet of Langerhans	UBERON:0000006	94.87	gold quality
gluteal muscle	UBERON:0002000	94.86	gold quality
triceps brachii	UBERON:0001509	94.69	gold quality
epithelium of bronchus	UBERON:0002031	94.62	gold quality
choroid plexus epithelium	UBERON:0003911	94.51	gold quality
bronchus	UBERON:0002185	94.46	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.22	gold quality
parotid gland	UBERON:0001831	94.18	gold quality
nephron tubule	UBERON:0001231	94.16	gold quality
adrenal cortex	UBERON:0001235	94.04	gold quality
renal glomerulus	UBERON:0000074	94.01	gold quality
decidua	UBERON:0002450	94.01	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-10	no	231.86
E-GEOD-81547	no	5.06
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting PIGP, 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-3682-5P	99.93	67.97	1163
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-584-5P	95.82	68.05	848
HSA-MIR-4694-5P	94.62	65.39	532

Literature-anchored findings (GeneRIF, showing 2)

• Results in mouse suggest that this is the only gene from the Down Syndrome Critical Region expressed in the developing tongue and that the encoded protein may be involved in pathophysiology of tongue malformation seen in Down syndrome. (PMID:11331941)
• Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome. (PMID:37125481)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pigp	ENSDARG00000038805
mus_musculus	Pigp	ENSMUSG00000022940
rattus_norvegicus	Pigp	ENSRNOG00000039850

Protein

Protein identifiers

Phosphatidylinositol N-acetylglucosaminyltransferase subunit P — P57054 (reviewed: P57054)

Alternative names: Down syndrome critical region protein 5, Down syndrome critical region protein C, Phosphatidylinositol-glycan biosynthesis class P protein

All UniProt accessions (2): C9JKT1, P57054

UniProt curated annotations — full annotation on UniProt →

Function. Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

Subunit / interactions. Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2. Interacts directly with PIGA and PIGQ.

Subcellular location. Membrane.

Tissue specificity. Ubiquitous.

Disease relevance. Developmental and epileptic encephalopathy 55 (DEE55) [MIM:617599] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE55 is an autosomal recessive condition. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Similarity. Belongs to the PIGP family.

Isoforms (3)

UniProt ID	Names	Canonical?
P57054-1	B	yes
P57054-2	A
P57054-3	C, DCRC-S

RefSeq proteins (4): NP_001307409, NP_057514, NP_710148, NP_710149* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013717	PIG-P	Domain
IPR016542	PIG-P_GPI19	Family
IPR052263	GPI_Anchor_Biosynth	Family

Pfam: PF08510

Enzyme classification (BRENDA):

• EC 2.4.1.198 — phosphatidylinositol N-acetylglucosaminyltransferase (BRENDA: 42 organisms, 12 substrates, 7 inhibitors, 0 Km, 0 kcat entries)

UniProt features (12 total): sequence variant 4, splice variant 3, transmembrane region 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57054-F1	82.42	0.34

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)

MSigDB gene sets: 335 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP

GO Biological Process (1): GPI anchor biosynthetic process (GO:0006506)

GO Molecular Function (2): phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176), protein binding (GO:0005515)

GO Cellular Component (4): glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational modification: synthesis of GPI-anchored proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GPI anchor metabolic process	1
glycolipid biosynthetic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
acetylglucosaminyltransferase activity	1
binding	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

654 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIGP	PIGH	Q14442	999
PIGP	PIGC	Q92535	999
PIGP	PIGY	Q3MUY2	999
PIGP	PIGQ	Q9BRB3	998
PIGP	PIGA	P37287	998
PIGP	DPM2	O94777	996
PIGP	PYURF	Q96I23	882
PIGP	PIGL	Q9Y2B2	808
PIGP	PIGB	Q92521	769
PIGP	PIGV	Q9NUD9	769
PIGP	PIGO	Q8TEQ8	758
PIGP	PIGM	Q9H3S5	744
PIGP	PIGT	Q969N2	735
PIGP	GPAA1	O43292	716
PIGP	PIGG	Q5H8A4	716

IntAct

78 interactions, top by confidence:

A	B	Type	Score
PIGA	PIGP	psi-mi:“MI:0915”(physical association)	0.710
PIGA	PIGP	psi-mi:“MI:0914”(association)	0.710
PIGA	DPM2	psi-mi:“MI:0914”(association)	0.660
DPM2	PIGA	psi-mi:“MI:0914”(association)	0.660
PTPN1	PIGP	psi-mi:“MI:0915”(physical association)	0.560
	PIGP	psi-mi:“MI:0915”(physical association)	0.560
PLP1	PIGP	psi-mi:“MI:0915”(physical association)	0.560
ITGAM	PIGP	psi-mi:“MI:0915”(physical association)	0.560
LHFPL3	PIGP	psi-mi:“MI:0915”(physical association)	0.560
TMEM229B	PIGP	psi-mi:“MI:0915”(physical association)	0.560
UBIAD1	PIGP	psi-mi:“MI:0915”(physical association)	0.560
IER3IP1	PIGP	psi-mi:“MI:0915”(physical association)	0.560
SMAGP	PIGP	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	PIGP	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	PIGP	psi-mi:“MI:0915”(physical association)	0.560
PIGP	PLP2	psi-mi:“MI:0915”(physical association)	0.560
PIGP	IER3IP1	psi-mi:“MI:0915”(physical association)	0.560
PIGP	SMAGP	psi-mi:“MI:0915”(physical association)	0.560
PIGP	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
PIGP	TMEM19	psi-mi:“MI:0915”(physical association)	0.560
PIGP	NINJ2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (42): PYCARD (Affinity Capture-MS), PIGA (Affinity Capture-MS), PIGH (Affinity Capture-MS), PIGP (Affinity Capture-RNA), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid), PIGP (Two-hybrid)

ESM2 similar proteins: A0A1B0GQX3, A0A1B0GRQ0, A0A1B0GV90, A4D0T7, A4QNL6, A6NFZ4, A9RA88, B0CMA4, B3DHH5, C0HJJ0, C1PGW0, D3YUK8, F2Z3Y9, F5HFG3, G1TZA0, G2TRP0, O13001, O14068, O39920, P0DKX4, P34535, P57054, P61807, P61808, Q06FW7, Q19443, Q3E8L0, Q3E912, Q3T0S0, Q4V921, Q54L98, Q5F3W2, Q5R687, Q5RBD8, Q5U4Q2, Q66J27, Q6PQZ3, Q80UA9, Q80ZU4, Q8AUU1

Diamond homologs: O13904, O64792, P57054, Q5R946, Q9JHG1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	74
Likely benign	54
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

810 predictions. Top by Δscore:

Variant	Effect	Δscore
21:37065634:T:TA	donor_gain	1.0000
21:37072432:A:AC	donor_gain	1.0000
21:37072433:C:CC	donor_gain	1.0000
21:37065631:A:AC	donor_gain	0.9900
21:37065632:C:CC	donor_gain	0.9900
21:37065634:TC:T	donor_gain	0.9900
21:37065649:T:C	donor_gain	0.9900
21:37069550:A:AC	donor_gain	0.9900
21:37069551:C:CC	donor_gain	0.9900
21:37069620:AAGTA:A	acceptor_gain	0.9900
21:37069622:GTA:G	acceptor_gain	0.9900
21:37069623:TA:T	acceptor_gain	0.9900
21:37069625:C:CC	acceptor_gain	0.9900
21:37072433:CTG:C	donor_gain	0.9900
21:37072433:CTGAA:C	donor_gain	0.9900
21:37072484:T:A	donor_gain	0.9900
21:37065551:CGTG:C	donor_gain	0.9800
21:37065552:G:C	donor_gain	0.9800
21:37065554:G:A	donor_gain	0.9800
21:37065575:A:T	donor_gain	0.9800
21:37065632:CT:C	donor_gain	0.9800
21:37065633:TT:T	donor_gain	0.9800
21:37069621:AGTA:A	acceptor_gain	0.9800
21:37072425:AGTAC:A	donor_loss	0.9800
21:37072426:GTAC:G	donor_loss	0.9800
21:37072427:TAC:T	donor_loss	0.9800
21:37072428:ACTTA:A	donor_loss	0.9800
21:37072429:C:G	donor_loss	0.9800
21:37072430:T:TC	donor_loss	0.9800
21:37072431:TACTG:T	donor_loss	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000277254 (21:37069893 T>C), RS1000389746 (21:37073965 G>C), RS1000440649 (21:37073649 T>C), RS1000568369 (21:37068674 T>C), RS1000605812 (21:37068086 A>G), RS1001146702 (21:37073212 C>A,T), RS1001469342 (21:37069040 T>C,G), RS1001500308 (21:37068724 T>A,C), RS1001522120 (21:37073387 G>C), RS1001799829 (21:37067477 T>C), RS1001986000 (21:37073062 T>C,G), RS1002053655 (21:37073946 C>A), RS1003006049 (21:37066995 T>C), RS1003501412 (21:37066014 C>T), RS1004060228 (21:37072331 G>A)

Disease associations

OMIM: gene MIM:605938 | disease phenotypes: MIM:617599

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 55	Strong	Autosomal recessive
multiple congenital anomalies-hypotonia-seizures syndrome	Moderate	Autosomal recessive
genetic developmental and epileptic encephalopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 55	Moderate	AR

Mondo (4): developmental and epileptic encephalopathy, 55 (MONDO:0033364), developmental and epileptic encephalopathy (MONDO:0100620), genetic developmental and epileptic encephalopathy (MONDO:0100062), multiple congenital anomalies-hypotonia-seizures syndrome (MONDO:0100247)

Orphanet (0):

HPO phenotypes

79 total (30 of 79 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000054	Micropenis
HP:0000070	Ureterocele
HP:0000110	Renal dysplasia
HP:0000175	Cleft palate
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000729	Autistic behavior
HP:0000752	Hyperactivity
HP:0000817	Reduced eye contact
HP:0000826	Precocious puberty
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001272	Cerebellar atrophy
HP:0001302	Pachygyria
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001347	Hyperreflexia
HP:0001371	Flexion contracture
HP:0001382	Joint hypermobility
HP:0001500	Broad finger
HP:0001508	Failure to thrive

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
sodium bichromate	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	increases expression	1
picoxystrobin	increases expression	1
Leflunomide	decreases expression	1
Doxorubicin	decreases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Piroxicam	decreases expression	1
Selenium	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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)
NCT03347526	PHASE3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	PHASE3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT04289467	PHASE2	RECRUITING	Treatment of Refractory Infantile Spasms With Fenfluramine
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
NCT04727970	PHASE1	COMPLETED	Tricaprilin Infantile Spasms Pilot Study
NCT05364021	PHASE1/PHASE2	COMPLETED	Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies
NCT06983158	PHASE1/PHASE2	SUSPENDED	A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy
NCT04937062	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
NCT06149663	Not specified	AVAILABLE	Intermediate-Size Expanded Access Protocol (EAP) for LP352
NCT06380192	Not specified	RECRUITING	Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT07396883	Not specified	NOT_YET_RECRUITING	Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
NCT07531511	Not specified	NOT_YET_RECRUITING	SLC6A1-NDD Prospective Longitudinal Natural History Study
NCT07585643	Not specified	NOT_YET_RECRUITING	IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).
NCT03876444	PHASE2/PHASE3	UNKNOWN	Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms
NCT05279118	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Ketogenic Diet vs ACTH for the Treatment of Children With West Syndrome
NCT04302116	Not specified	RECRUITING	Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm
NCT05538936	Not specified	COMPLETED	The Effect of Spa and Massage on Babies on Colic Symptoms
NCT06266234	Not specified	RECRUITING	Characterization by Automated System on Infantile Spasmes
NCT07413211	Not specified	RECRUITING	Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness