NECAP1

Summary

NECAP1 (NECAP endocytosis associated 1, HGNC:24539) is a protein-coding gene on chromosome 12p13.31, encoding Adaptin ear-binding coat-associated protein 1 (Q8NC96). Involved in endocytosis.

This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 25977 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental and epileptic encephalopathy, 21 (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 198 total — 4 pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_015509

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24539
Approved symbol	NECAP1
Name	NECAP endocytosis associated 1
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP566B183
Ensembl gene	ENSG00000089818
Ensembl biotype	protein_coding
OMIM	611623
Entrez	25977

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 13 retained_intron, 8 protein_coding, 6 nonsense_mediated_decay

ENST00000339754, ENST00000450991, ENST00000537796, ENST00000540083, ENST00000541948, ENST00000542095, ENST00000544891, ENST00000545807, ENST00000546181, ENST00000638237, ENST00000638334, ENST00000638787, ENST00000638883, ENST00000639038, ENST00000639071, ENST00000639167, ENST00000639276, ENST00000639595, ENST00000639811, ENST00000639841, ENST00000639955, ENST00000640072, ENST00000640091, ENST00000640099, ENST00000640209, ENST00000640481, ENST00000640648

RefSeq mRNA: 1 — MANE Select: NM_015509 NM_015509

CCDS: CCDS8589

Canonical transcript exons

ENST00000339754 — 8 exons

Exon	Start	End
ENSE00003471222	8095601	8095703
ENSE00003474253	8090195	8090299
ENSE00003492641	8096042	8097881
ENSE00003548586	8092676	8092784
ENSE00003571756	8089936	8090036
ENSE00003637844	8091769	8091850
ENSE00003679697	8092872	8093055
ENSE00003891630	8082274	8082383

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 97.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.1351 / max 531.0837, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123947	30.7903	1812
123946	3.5384	1430
123948	0.8064	449

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.99	gold quality
prefrontal cortex	UBERON:0000451	97.09	gold quality
cerebellar cortex	UBERON:0002129	96.97	gold quality
cerebellar hemisphere	UBERON:0002245	96.96	gold quality
pons	UBERON:0000988	96.90	gold quality
cerebellum	UBERON:0002037	96.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.08	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.98	gold quality
superior vestibular nucleus	UBERON:0007227	95.73	gold quality
cingulate cortex	UBERON:0003027	95.50	gold quality
frontal cortex	UBERON:0001870	95.49	gold quality
anterior cingulate cortex	UBERON:0009835	95.48	gold quality
cerebellar vermis	UBERON:0004720	95.39	gold quality
right frontal lobe	UBERON:0002810	95.35	gold quality
neocortex	UBERON:0001950	95.31	gold quality
nucleus accumbens	UBERON:0001882	95.19	gold quality
islet of Langerhans	UBERON:0000006	95.17	gold quality
hypothalamus	UBERON:0001898	95.14	gold quality
cerebral cortex	UBERON:0000956	94.81	gold quality
paraflocculus	UBERON:0005351	94.59	gold quality
amygdala	UBERON:0001876	94.35	gold quality
brain	UBERON:0000955	94.30	gold quality
adenohypophysis	UBERON:0002196	94.23	gold quality
telencephalon	UBERON:0001893	94.22	gold quality
forebrain	UBERON:0001890	94.20	gold quality
frontal pole	UBERON:0002795	94.17	gold quality
central nervous system	UBERON:0001017	94.16	gold quality
middle temporal gyrus	UBERON:0002771	94.15	gold quality
pituitary gland	UBERON:0000007	93.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

141 targeting NECAP1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4514	99.99	67.10	1870
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-4482-3P	99.98	72.50	3147
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819

Literature-anchored findings (GeneRIF, showing 2)

• NECAP1 mutation links trafficking pathway in early infantile epileptic encephalopathy. (PMID:24399846)
• NECAP recruits drivers of late stages of clathrin-coated pit (CCP) formation, including SNX9, via a site distinct from where NECAP binds AP2. (PMID:31430451)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	necap1	ENSDARG00000020798
mus_musculus	Necap1	ENSMUSG00000030327
rattus_norvegicus	Necap1	ENSRNOG00000009236

Paralogs (1): NECAP2 (ENSG00000157191)

Protein

Protein identifiers

Adaptin ear-binding coat-associated protein 1 — Q8NC96 (reviewed: Q8NC96)

Alternative names: NECAP endocytosis-associated protein 1

All UniProt accessions (12): Q8NC96, A0A1W2PNT6, A0A1W2PPF5, A0A1W2PQK9, A0A1W2PR09, A0A1W2PR27, A0A1W2PRL5, A0A1W2PRM0, A0A1W2PRQ7, A0A1W2PRW5, F5GYH1, F5H2U7

UniProt curated annotations — full annotation on UniProt →

Function. Involved in endocytosis.

Subunit / interactions. Interacts with AP1G1 and AP2A1 components of the adapter protein complexes AP-1 and AP-2. Interacts with the GAE domain proteins GGA1, GGA2 and GGA3.

Subcellular location. Cytoplasmic vesicle. Clathrin-coated vesicle membrane. Cell membrane.

Disease relevance. Developmental and epileptic encephalopathy 21 (DEE21) [MIM:615833] A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself. The WXXF motif 1, which is preceded by an acidic residue and has a glycine in second position mediates specific interaction with AP-1. The WXXF motif 2, which is followed by the C-terminal carboxyl group negative charge, allows specific interaction with AP-2.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the NECAP family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NC96-1	1	yes
Q8NC96-2	2

RefSeq proteins (1): NP_056324* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR012466	NECAP_PHear	Domain

Pfam: PF07933

UniProt features (30 total): strand 10, turn 4, sequence conflict 3, region of interest 2, helix 2, short sequence motif 2, modified residue 2, splice variant 2, chain 1, sequence variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6RH5	SOLUTION NMR
6RH6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NC96-F1	70.78	0.31

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 (2): 180, 211

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport

MSigDB gene sets: 0 (showing top):

GO Biological Process (4): protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), presynaptic endocytosis (GO:0140238), endocytosis (GO:0006897)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): cytosol (GO:0005829), plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), clathrin vesicle coat (GO:0030125), presynapse (GO:0098793), membrane (GO:0016020), clathrin-coated vesicle membrane (GO:0030665), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Membrane Trafficking	2
trans-Golgi Network Vesicle Budding	1
Clathrin-mediated endocytosis	1
Vesicle-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
transport	2
cytoplasm	2
membrane	2
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
endocytosis	1
establishment of localization in cell	1
presynapse	1
vesicle-mediated transport in synapse	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
binding	1
cell periphery	1
endomembrane system	1
clathrin coat	1
vesicle coat	1
clathrin-coated vesicle membrane	1
synapse	1
clathrin-coated vesicle	1
coated vesicle membrane	1
intracellular vesicle	1

Protein interactions and networks

STRING

750 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NECAP1	AP2A1	O95782	886
NECAP1	FCHO1	O14526	779
NECAP1	FCHO2	Q0JRZ9	699
NECAP1	AMPH	P49418	639
NECAP1	EPS15	P42566	623
NECAP1	BIN1	O00499	595
NECAP1	EPN2	O95208	593
NECAP1	ITSN2	Q9NZM3	593
NECAP1	AP2M1	P20172	589
NECAP1	CLTB	P09497	585
NECAP1	AP2B1	P21851	571
NECAP1	CLTA	P09496	570
NECAP1	ITSN1	Q15811	525
NECAP1	HIP1R	O75146	455
NECAP1	EPS15L1	Q9UBC2	448

IntAct

22 interactions, top by confidence:

A	B	Type	Score
AP1B1	NECAP1	psi-mi:“MI:0915”(physical association)	0.560
AP2M1	BCR/ABL fusion	psi-mi:“MI:0914”(association)	0.460
NECAP1	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
GTSE1	HIP1	psi-mi:“MI:0914”(association)	0.350
CLTC		psi-mi:“MI:0914”(association)	0.350
RAB4B	NSF	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
AP2M1	C1orf226	psi-mi:“MI:0914”(association)	0.350
SPATA1	ANKHD1	psi-mi:“MI:0914”(association)	0.350
NECAP2	ANKRD28	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
NECAP1	SMARCA5	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
DNAJC5	NECAP1	psi-mi:“MI:2364”(proximity)	0.270
NECAP1	AP1B1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (90): NECAP1 (Two-hybrid), NECAP1 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), CARHSP1 (Co-fractionation), KIAA0907 (Co-fractionation), NECAP1 (Co-fractionation), NECAP1 (Co-fractionation), PHGDH (Co-fractionation), PITPNA (Co-fractionation), UFC1 (Co-fractionation), NECAP1 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), NECAP1 (Affinity Capture-MS), AP1G1 (Affinity Capture-Western)

ESM2 similar proteins: A7TK16, B5RTE0, C4YIM0, C5DT65, E2RU10, F4JFN3, G2TRJ8, O14056, O42921, O60200, P0CM70, P0CM71, P0CM86, P0CM87, P0CT19, P32830, P34511, P35191, P35728, P38344, P42949, P45967, P69682, Q02772, Q1K8U2, Q21551, Q3E731, Q3T093, Q462Q7, Q4P821, Q54IA0, Q54P95, Q54XQ8, Q54YG9, Q5AL10, Q5R630, Q6C4R1, Q6C961, Q6CS47, Q6FQJ2

Diamond homologs: P69682, Q3T093, Q5E9Q4, Q5R630, Q681Q7, Q6P756, Q8NC96, Q9CR95, Q9D1J1, Q9NVZ3, Q9VXB0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NECAP1	“up-regulates activity”	“AP-2 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
vesicle-mediated transport	5	24.1×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	98
Likely benign	83
Benign	5

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1994553	NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)	Pathogenic
2664603	NM_015509.4(NECAP1):c.38_39del (p.Val13fs)	Pathogenic
688920	GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1	Pathogenic
929499	NM_015509.4(NECAP1):c.301+1G>A	Pathogenic

SpliceAI

726 predictions. Top by Δscore:

Variant	Effect	Δscore
12:8082378:TTAC:T	donor_gain	1.0000
12:8082379:TACAG:T	donor_loss	1.0000
12:8082380:ACAGG:A	donor_loss	1.0000
12:8082381:CAGG:C	donor_loss	1.0000
12:8082382:AGGTA:A	donor_loss	1.0000
12:8089928:T:A	acceptor_gain	1.0000
12:8089934:A:AC	acceptor_loss	1.0000
12:8089934:A:AG	acceptor_gain	1.0000
12:8089934:AG:A	acceptor_gain	1.0000
12:8089934:AGG:A	acceptor_gain	1.0000
12:8089935:G:GT	acceptor_gain	1.0000
12:8089935:GG:G	acceptor_gain	1.0000
12:8089935:GGG:G	acceptor_gain	1.0000
12:8089935:GGGC:G	acceptor_gain	1.0000
12:8089935:GGGCC:G	acceptor_gain	1.0000
12:8089999:G:T	donor_gain	1.0000
12:8090034:CAG:C	donor_loss	1.0000
12:8090036:GG:G	donor_loss	1.0000
12:8090037:G:T	donor_loss	1.0000
12:8090038:T:G	donor_loss	1.0000
12:8090189:T:TA	acceptor_gain	1.0000
12:8090192:CAG:C	acceptor_loss	1.0000
12:8090193:A:AG	acceptor_gain	1.0000
12:8090193:AG:A	acceptor_gain	1.0000
12:8090193:AGG:A	acceptor_gain	1.0000
12:8090193:AGGG:A	acceptor_gain	1.0000
12:8090194:G:A	acceptor_gain	1.0000
12:8090194:G:GT	acceptor_gain	1.0000
12:8090194:GGG:G	acceptor_gain	1.0000
12:8090194:GGGG:G	acceptor_gain	1.0000

AlphaMissense

1789 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:8082344:T:A	V19D	1.000
12:8082346:T:G	Y20D	1.000
12:8089938:C:A	A33D	1.000
12:8089946:T:A	W36R	1.000
12:8089946:T:C	W36R	1.000
12:8089947:G:C	W36S	1.000
12:8089948:G:C	W36C	1.000
12:8089948:G:T	W36C	1.000
12:8089967:T:A	W43R	1.000
12:8089967:T:C	W43R	1.000
12:8089969:G:C	W43C	1.000
12:8089969:G:T	W43C	1.000
12:8089973:G:C	G45R	1.000
12:8089974:G:A	G45D	1.000
12:8089977:G:C	R46P	1.000
12:8089980:T:C	L47P	1.000
12:8089983:G:C	R48P	1.000
12:8090007:C:A	A56D	1.000
12:8090013:T:A	I58N	1.000
12:8090019:T:A	L60H	1.000
12:8090019:T:C	L60P	1.000
12:8090203:T:C	F69L	1.000
12:8090204:T:C	F69S	1.000
12:8090205:T:A	F69L	1.000
12:8090205:T:G	F69L	1.000
12:8090207:C:A	A70D	1.000
12:8090212:G:C	A72P	1.000
12:8090243:T:A	V82E	1.000
12:8090257:G:C	D87H	1.000
12:8090258:A:C	D87A	1.000

dbSNP variants (sampled 300 via entrez): RS1000311108 (12:8087056 A>G), RS1000377207 (12:8093418 C>T), RS1000791754 (12:8091078 T>C), RS1000806277 (12:8081950 C>T), RS1001157034 (12:8093846 G>A), RS1001575222 (12:8082851 C>T), RS1001585997 (12:8094415 A>G), RS1002115263 (12:8092048 A>G), RS1002560357 (12:8088721 C>T), RS1002624765 (12:8092437 A>G,T), RS1002750227 (12:8087977 G>A), RS1002764765 (12:8095095 A>G), RS1002838826 (12:8095341 C>T), RS1003007223 (12:8082210 C>A,T), RS1003051880 (12:8081955 CA>C)

Disease associations

OMIM: gene MIM:611623 | disease phenotypes: MIM:615833

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 21	Strong	Autosomal recessive
genetic developmental and epileptic encephalopathy	Moderate	Autosomal recessive
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Moderate	AR

Mondo (3): developmental and epileptic encephalopathy, 21 (MONDO:0014360), genetic developmental and epileptic encephalopathy (MONDO:0100062), undetermined early-onset epileptic encephalopathy (MONDO:0018614)

Orphanet (1): Non-specific early-onset epileptic encephalopathy (Orphanet:442835)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000348	High forehead
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Reduced tendon reflexes
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001508	Failure to thrive
HP:0001558	Decreased fetal movement
HP:0002020	Gastroesophageal reflux

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

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, affects cotreatment, increases abundance, increases expression	3
bisphenol A	decreases methylation, increases expression, affects cotreatment	2
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	increases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Vehicle Emissions	affects expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Hydrogen Peroxide	affects expression	1
Lead	affects expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1
tert-Butylhydroperoxide	affects expression	1
Vitamin K 3	affects expression	1
Particulate Matter	affects expression, increases abundance	1

Clinical trials (associated diseases)

12 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)
NCT05626634	PHASE2	COMPLETED	Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
NCT06700811	PHASE1	RECRUITING	Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies
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).