Epileptic Encephalopathy, Early Infantile, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EPL037 MIFTS: 37	Epileptic Encephalopathy, Early Infantile, 1 Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases
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Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 1

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 1:

Name: Epileptic Encephalopathy, Early Infantile, 1 ⁵⁷ ²⁵ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Infantile Epileptic-Dyskinetic Encephalopathy ⁵⁷ ²⁵ ⁵⁹ ⁷⁵

Eiee1 ⁵⁷ ²⁵ ⁷⁵

Issx1 ⁵⁷ ²⁵ ⁷⁵

X-Linked Infantile Spasm Syndrome ²⁵ ⁷³

Xmesid ⁵⁷ ⁷⁵

Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity ⁷⁵

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome ⁵⁹

Encephalopathy, Epileptic, Early Infantile, Type 1 ⁴⁰

Infantile Spasm Syndrome, X-Linked 1; Issx1 ⁵⁷

Early Infantile Epileptic Encephalopathy 1 ²⁵

Early Infantile Epileptic Encephalopathy-1 ²⁵

Infantile Spasm Syndrome, X-Linked 1 ⁵⁷

X-Linked Infantile Spasm Syndrome 1 ²⁵

Infantile Spasm Syndrome X-Linked 1 ⁷⁵

Ohtahara Syndrome, X-Linked ⁵⁷

X-Linked Ohtahara Syndrome ²⁵

Ohtahara Syndrome X-Linked ⁷⁵

West Syndrome, X-Linked ⁵⁷

X-Linked West Syndrome ²⁵

West Syndrome X-Linked ⁷⁵

Issx ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

x-linked spasticity-intellectual disability-epilepsy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

infantile epileptic-dyskinetic encephalopathy
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
x-linked recessive

Miscellaneous:
onset of seizures in first months of life (usually 4 to 7 months)
dyskinesias occur in a subset of patients later than seizures (6 to 12 months)
males are most severely affected, but females can also be affected

HPO:

³²

epileptic encephalopathy, early infantile, 1:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Mental diseases Liver diseases Muscle diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Other generalized epilepsy and epileptic syndromes

Extrapyramidal and movement disorders

Other extrapyramidal and movement disorders

Myoclonus

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 308350

Orphanet ⁵⁹ ORPHA3175 ORPHA364063

ICD10 via Orphanet ³⁴ G25.3 G40.4

MedGen ⁴² C3463992 C0037769 C2931919

MeSH ⁴⁴ D013036

UMLS ⁷³ C3463992 C2931919

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Summaries for Epileptic Encephalopathy, Early Infantile, 1

OMIM : ⁵⁷ Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is 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. Approximately 75% of EIEE patients progress to 'West syndrome,' which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm. EIEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1) to syndromic (309510) and nonsyndromic (300419) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). (308350)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 1, also known as infantile epileptic-dyskinetic encephalopathy, is related to epileptic encephalopathy, early infantile, 6 and west syndrome, and has symptoms including dyspnea, muscle spasticity and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 1 is ARX (Aristaless Related Homeobox). Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

Genetics Home Reference : ²⁵ Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported type involves bending at the waist and neck and extending the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals do not usually have spasms while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually stop by age 5, but many children then develop other types of seizures that recur throughout their lives.

UniProtKB/Swiss-Prot : ⁷⁵ Epileptic encephalopathy, early infantile, 1: 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.

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Related Diseases for Epileptic Encephalopathy, Early Infantile, 1

Diseases in the Infantile Epileptic Encephalopathy family:

Diseases related to Epileptic Encephalopathy, Early Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)

#	Related Disease	Score	Top Affiliating Genes
1	epileptic encephalopathy, early infantile, 6	30.8	KCNQ2 TBC1D24
2	west syndrome	30.7	ARX KCNQ2 TBC1D24
3	corpus callosum, agenesis of, with abnormal genitalia	10.7
4	epileptic encephalopathy, early infantile, 9	10.7
5	lissencephaly, x-linked, 2	10.7
6	mental retardation, x-linked, with or without seizures, arx-related	10.7
7	epileptic encephalopathy, early infantile, 8	10.7
8	epileptic encephalopathy, early infantile, 2	10.7
9	congenital disorder of glycosylation, type iim	10.7
10	partington x-linked mental retardation syndrome	10.7
11	epileptic encephalopathy, early infantile, 3	10.7
12	microcephaly, seizures, and developmental delay	10.7
13	epileptic encephalopathy, early infantile, 11	10.7
14	epileptic encephalopathy, early infantile, 14	10.7
15	epileptic encephalopathy, early infantile, 16	10.7
16	epileptic encephalopathy, early infantile, 17	10.7
17	epileptic encephalopathy, early infantile, 18	10.7
18	epileptic encephalopathy, early infantile, 27	10.7
19	epileptic encephalopathy, early infantile, 37	10.7
20	epileptic encephalopathy, early infantile, 47	10.7
21	epileptic encephalopathy, early infantile, 48	10.7
22	epileptic encephalopathy, early infantile, 49	10.7
23	epileptic encephalopathy, early infantile, 52	10.7
24	epileptic encephalopathy, early infantile, 53	10.7
25	epileptic encephalopathy, early infantile, 56	10.7
26	epileptic encephalopathy, early infantile, 58	10.7
27	epileptic encephalopathy, early infantile, 64	10.7
28	epileptic encephalopathy, early infantile, 65	10.7
29	benign familial neonatal epilepsy	9.9	KCNQ2 TBC1D24
30	infantile epileptic encephalopathy	9.9
31	iqsec2	9.9
32	childhood electroclinical syndrome	9.9	KCNQ2 TBC1D24
33	lennox-gastaut syndrome	9.8	KCNQ2 TBC1D24
34	generalized epilepsy with febrile seizures plus	9.7	KCNQ2 TBC1D24
35	spinocerebellar ataxia, autosomal recessive 12	9.7	MAF WWOX
36	benign epilepsy with centrotemporal spikes	9.5	KCNQ2 TBC1D24 WWOX
37	epileptic encephalopathy, early infantile, 15	9.5	ARX KCNQ2
38	infancy electroclinical syndrome	9.3	ARX KCNQ2 TBC1D24
39	neonatal period electroclinical syndrome	9.3	ARX KCNQ2 TBC1D24
40	epilepsy, idiopathic generalized	9.2	ARX KCNQ2 TBC1D24
41	epilepsy	9.2	ARX KCNQ2 TBC1D24
42	trehalase deficiency	8.6	ARX KCNQ2 TBC1D24

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 1:

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Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
spasticity
hyperreflexia
hypertonia
dystonia
choreoathetosis
more

Respiratory:
dyspnea

Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
decreased head circumference

Clinical features from OMIM:

308350

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 1:

⁵⁹ ³² (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	spasticity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001257
3	hypertonia ⁵⁹ ³²		Very frequent (99-80%)	HP:0001276
4	rigidity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002063
5	hemiplegia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002301
6	status epilepticus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002133
7	muscle stiffness ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003552
8	hyperreflexia ³²			HP:0001347
9	dysphagia ³²			HP:0002015
10	microcephaly ³²			HP:0000252
11	dyspnea ³²			HP:0002094
12	generalized myoclonic seizures ³²			HP:0002123
13	dystonia ³²			HP:0001332
14	ventriculomegaly ³²			HP:0002119
15	choreoathetosis ³²			HP:0001266
16	hypsarrhythmia ³²			HP:0002521
17	epileptic encephalopathy ³²			HP:0200134
18	muscular hypotonia of the trunk ³²			HP:0008936

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 1:

dyspnea, muscle spasticity, myoclonic seizures

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Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures	Completed	NCT02960347	Phase 2, Phase 3
2	Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome	Recruiting	NCT02896608
3	Genetics of Severe Early Onset Epilepsies	Recruiting	NCT01858285

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 1

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Genetic Tests for Epileptic Encephalopathy, Early Infantile, 1

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 1:

#	Genetic test	Affiliating Genes
1	Epileptic Encephalopathy, Early Infantile, 1 ²⁹	ARX

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Anatomical Context for Epileptic Encephalopathy, Early Infantile, 1

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 1:

⁴¹

Brain

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Publications for Epileptic Encephalopathy, Early Infantile, 1

Articles related to Epileptic Encephalopathy, Early Infantile, 1:

#	Title	Authors	Year
1	CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. ( 19807736 )	CA^rdova-Fletes C....Kalscheuer V.M.	2010

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Genes for Epileptic Encephalopathy, Early Infantile, 1

Genes related to Epileptic Encephalopathy, Early Infantile, 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ARX	Aristaless Related Homeobox	Protein Coding	1679.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11889467 12177367 17668384 (more) 18462864 19738637 21108397
2	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	444.88	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	25719194
3	WWOX	WW Domain Containing Oxidoreductase	Protein Coding	420.02	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	MAF	MAF BZIP Transcription Factor	Protein Coding	19.3	GeneCards inferred via : Variants (show sections)
5	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	17.89	GeneCards inferred via : Variants (show sections)

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Variations for Epileptic Encephalopathy, Early Infantile, 1

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ARX	p.Pro353Leu	VAR_015180	rs104894743

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 1:

⁶

(show top 50) (show all 460)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ARX	NM_139058.2(ARX)	NT expansion	Pathogenic	rs387906492	GRCh37	Chromosome X, 25031779: 25031781
2	ARX	NM_139058.2(ARX)	NT expansion	Pathogenic	rs387906492	GRCh38	Chromosome X, 25013662: 25013664
3	ARX	NM_139058.2(ARX): c.1058C> T (p.Pro353Leu)	single nucleotide variant	Pathogenic	rs104894743	GRCh37	Chromosome X, 25031054: 25031054
4	ARX	NM_139058.2(ARX): c.1058C> T (p.Pro353Leu)	single nucleotide variant	Pathogenic	rs104894743	GRCh38	Chromosome X, 25012937: 25012937
5	ARX	ARX, 1,517-BP DEL	deletion	Pathogenic
6	ARX	ARX, 33-BP DUP	duplication	Pathogenic
7	ARX	ARX, 1-BP DEL, 1465G	deletion	Pathogenic
8	ARX	NM_139058.2(ARX)	duplication	Pathogenic	rs587776869	GRCh37	Chromosome X, 25031651: 25031677
9	ARX	NM_139058.2(ARX)	duplication	Pathogenic	rs587776869	GRCh38	Chromosome X, 25013534: 25013560
10	ARX	NM_139058.2(ARX): c.81C> G (p.Tyr27Ter)	single nucleotide variant	Pathogenic	rs398122854	GRCh37	Chromosome X, 25033774: 25033774
11	ARX	NM_139058.2(ARX): c.81C> G (p.Tyr27Ter)	single nucleotide variant	Pathogenic	rs398122854	GRCh38	Chromosome X, 25015657: 25015657
12	ARX	NM_139058.2(ARX): c.1604T> A (p.Leu535Gln)	single nucleotide variant	Pathogenic	rs387906715	GRCh37	Chromosome X, 25022872: 25022872
13	ARX	NM_139058.2(ARX): c.1604T> A (p.Leu535Gln)	single nucleotide variant	Pathogenic	rs387906715	GRCh38	Chromosome X, 25004755: 25004755
14	TBC1D24	NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398122965	GRCh37	Chromosome 16, 2546873: 2546873
15	TBC1D24	NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs398122965	GRCh38	Chromosome 16, 2496872: 2496872
16	TBC1D24	NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs)	deletion	Pathogenic	rs398122967	GRCh37	Chromosome 16, 2548263: 2548263
17	TBC1D24	NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs)	deletion	Pathogenic	rs398122967	GRCh38	Chromosome 16, 2498262: 2498262
18	ARX	NM_139058.2(ARX): c.802G> T (p.Val268Leu)	single nucleotide variant	Benign	rs587783141	GRCh38	Chromosome X, 25013193: 25013193
19	ARX	NM_139058.2(ARX): c.802G> T (p.Val268Leu)	single nucleotide variant	Benign	rs587783141	GRCh37	Chromosome X, 25031310: 25031310
20	ARX	NM_139058.2(ARX): c.1111C> T (p.Arg371Ter)	single nucleotide variant	Pathogenic	rs587783182	GRCh37	Chromosome X, 25028385: 25028385
21	ARX	NM_139058.2(ARX): c.1111C> T (p.Arg371Ter)	single nucleotide variant	Pathogenic	rs587783182	GRCh38	Chromosome X, 25010268: 25010268
22	ARX	NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla)	duplication	Conflicting interpretations of pathogenicity	rs398124508	GRCh38	Chromosome X, 25007239: 25007241
23	ARX	NM_139058.2(ARX): c.1318_1320dupGCC (p.Ala440_Phe441insAla)	duplication	Conflicting interpretations of pathogenicity	rs398124508	GRCh37	Chromosome X, 25025356: 25025358
24	ARX	NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del)	deletion	Benign/Likely benign	rs587783197	GRCh37	Chromosome X, 25031777: 25031782
25	ARX	NM_139058.2(ARX): c.330_335delGGCGGC (p.Ala114_Ala115del)	deletion	Benign/Likely benign	rs587783197	GRCh38	Chromosome X, 25013660: 25013665
26	ARX	NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla)	duplication	Conflicting interpretations of pathogenicity	rs587783198	GRCh38	Chromosome X, 25013660: 25013662
27	ARX	NM_139058.2(ARX): c.333_335dupGGC (p.Ala115_Thr116insAla)	duplication	Conflicting interpretations of pathogenicity	rs587783198	GRCh37	Chromosome X, 25031777: 25031779
28	ARX	NM_139058.2(ARX): c.454G> A (p.Ala152Thr)	single nucleotide variant	Uncertain significance	rs587783201	GRCh37	Chromosome X, 25031658: 25031658
29	ARX	NM_139058.2(ARX): c.454G> A (p.Ala152Thr)	single nucleotide variant	Uncertain significance	rs587783201	GRCh38	Chromosome X, 25013541: 25013541
30	TBC1D24	NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs747821285	GRCh38	Chromosome 16, 2496476: 2496476
31	TBC1D24	NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs747821285	GRCh37	Chromosome 16, 2546477: 2546477
32	ARX	NM_139058.2(ARX): c.30C> A (p.Cys10Ter)	single nucleotide variant	Pathogenic	rs794726959	GRCh37	Chromosome X, 25033825: 25033825
33	ARX	NM_139058.2(ARX): c.30C> A (p.Cys10Ter)	single nucleotide variant	Pathogenic	rs794726959	GRCh38	Chromosome X, 25015708: 25015708
34	TBC1D24	NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs77585883	GRCh37	Chromosome 16, 2546171: 2546171
35	TBC1D24	NM_020705.2(TBC1D24): c.22T> C (p.Cys8Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs77585883	GRCh38	Chromosome 16, 2496170: 2496170
36	TBC1D24	NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu)	single nucleotide variant	Benign/Likely benign	rs201060500	GRCh37	Chromosome 16, 2546934: 2546934
37	TBC1D24	NM_001199107.1(TBC1D24): c.785C> T (p.Ser262Leu)	single nucleotide variant	Benign/Likely benign	rs201060500	GRCh38	Chromosome 16, 2496933: 2496933
38	TBC1D24	NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202162520	GRCh37	Chromosome 16, 2546318: 2546318
39	TBC1D24	NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202162520	GRCh38	Chromosome 16, 2496317: 2496317
40	ARX	NM_139058.2(ARX): c.1269C> T (p.His423=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs794727656	GRCh37	Chromosome X, 25025407: 25025407
41	ARX	NM_139058.2(ARX): c.1269C> T (p.His423=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs794727656	GRCh38	Chromosome X, 25007290: 25007290
42	TBC1D24	NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200226466	GRCh38	Chromosome 16, 2496327: 2496327
43	TBC1D24	NM_001199107.1(TBC1D24): c.179G> A (p.Arg60Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200226466	GRCh37	Chromosome 16, 2546328: 2546328
44	TBC1D24	NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His)	single nucleotide variant	Uncertain significance	rs201174513	GRCh38	Chromosome 16, 2496492: 2496492
45	TBC1D24	NM_001199107.1(TBC1D24): c.344G> A (p.Arg115His)	single nucleotide variant	Uncertain significance	rs201174513	GRCh37	Chromosome 16, 2546493: 2546493
46	TBC1D24	NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs376712059	GRCh38	Chromosome 16, 2496605: 2496605
47	TBC1D24	NM_001199107.1(TBC1D24): c.457G> A (p.Glu153Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs376712059	GRCh37	Chromosome 16, 2546606: 2546606
48	TBC1D24	NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser)	single nucleotide variant	Benign/Likely benign	rs200926225	GRCh38	Chromosome 16, 2496641: 2496641
49	TBC1D24	NM_001199107.1(TBC1D24): c.493G> A (p.Gly165Ser)	single nucleotide variant	Benign/Likely benign	rs200926225	GRCh37	Chromosome 16, 2546642: 2546642
50	TBC1D24	NM_001199107.1(TBC1D24): c.630G> A (p.Ala210=)	single nucleotide variant	Benign/Likely benign	rs776459372	GRCh38	Chromosome 16, 2496778: 2496778

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Expression for Epileptic Encephalopathy, Early Infantile, 1

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 1.

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Pathways for Epileptic Encephalopathy, Early Infantile, 1

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GO Terms for Epileptic Encephalopathy, Early Infantile, 1

Biological processes related to Epileptic Encephalopathy, Early Infantile, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	8.8	ARX MAF WWOX

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia