Epileptic Encephalopathy, Early Infantile, 13 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EIEE13 MCID: EPL082 MIFTS: 27	Epileptic Encephalopathy, Early Infantile, 13 (EIEE13) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 13

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 13:

Name: Epileptic Encephalopathy, Early Infantile, 13 ⁵⁸ ⁷⁶ ¹³ ⁷⁴

Early Infantile Epileptic Encephalopathy 13 ¹² ³⁰ ⁶ ¹⁵

Eiee13 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures before age 2 years

HPO:

³³

epileptic encephalopathy, early infantile, 13:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080445

OMIM ⁵⁸ 614558

MeSH ⁴⁵ D013036

MedGen ⁴³ C3281191

SNOMED-CT via HPO ⁷⁰ 15805002 224958001 228156007 more

UMLS ⁷⁴ C3281191

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Summaries for Epileptic Encephalopathy, Early Infantile, 13

UniProtKB/Swiss-Prot : ⁷⁶ Epileptic encephalopathy, early infantile, 13: A 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. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 13, also known as early infantile epileptic encephalopathy 13, is related to scn8a encephalopathy and scn8a-related epilepsy with encephalopathy. An important gene associated with Epileptic Encephalopathy, Early Infantile, 13 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include liver and eye, and related phenotypes are cerebral atrophy and intellectual disability

Disease Ontology : ¹² An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN8A gene on chromosome 12q13.

Description from OMIM: 614558

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Related Diseases for Epileptic Encephalopathy, Early Infantile, 13

Diseases in the Early Infantile Epileptic Encephalopathy family:

Diseases related to Epileptic Encephalopathy, Early Infantile, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	scn8a encephalopathy	11.6
2	scn8a-related epilepsy with encephalopathy	11.5

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Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 13

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 13:

³³ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	cerebral atrophy ³³	occasional (7.5%)	HP:0002059
2	intellectual disability ³³		HP:0001249
3	developmental regression ³³		HP:0002376
4	global developmental delay ³³		HP:0001263
5	autism ³³		HP:0000717
6	epileptic encephalopathy ³³		HP:0200134
7	generalized hypotonia ³³		HP:0001290
8	epileptic spasms ³³		HP:0011097
9	progressive microcephaly ³³		HP:0000253

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
epileptic spasms
seizures, refractory
delayed psychomotor development
more

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autism

Head And Neck Head:
microcephaly, progressive (in some patients)

Clinical features from OMIM:

614558

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Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 13

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 13

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Genetic Tests for Epileptic Encephalopathy, Early Infantile, 13

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 13:

#	Genetic test	Affiliating Genes
1	Early Infantile Epileptic Encephalopathy 13 ³⁰	SCN8A

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Anatomical Context for Epileptic Encephalopathy, Early Infantile, 13

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 13:

⁴²

Liver, Eye

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Publications for Epileptic Encephalopathy, Early Infantile, 13

Articles related to Epileptic Encephalopathy, Early Infantile, 13:

#	Title	Authors	Year
1	Autosomal dominant SCN8A mutation with an unusually mild phenotype. ( 27210545 )	Anand G...Jayawant S	2016
2	De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. ( 25725044 )	Blanchard MG...Kamsteeg EJ	2015
3	Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. ( 25239001 )	de Kovel CG...Koeleman BP	2014
4	Early onset epileptic encephalopathy caused by de novo SCN8A mutations. ( 24888894 )	Ohba C...Saitsu H	2014
5	Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )	Carvill GL...Mefford HC	2013
6	De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. ( 22365152 )	Veeramah KR...Hammer MF	2012

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Genes for Epileptic Encephalopathy, Early Infantile, 13

Genes related to Epileptic Encephalopathy, Early Infantile, 13 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	1336.87	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	27559564 27210545 22365152 (more) 23708187 24888894 25239001 25725044

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Variations for Epileptic Encephalopathy, Early Infantile, 13

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

⁷⁶ (show all 25)

#	Symbol	AA change	Variation ID	SNP ID
1	SCN8A	p.Asn1768Asp	VAR_067539	rs202151337
2	SCN8A	p.Val216Asp	VAR_071674	rs879255696
3	SCN8A	p.Phe846Ser	VAR_071675	rs879255700
4	SCN8A	p.Ile1327Val	VAR_071676	rs879255704
5	SCN8A	p.Asn1466Lys	VAR_071677	rs587777722
6	SCN8A	p.Asn1466Thr	VAR_071678	rs587777723
7	SCN8A	p.Arg1617Gln	VAR_071679	rs587777721
8	SCN8A	p.Ala1650Thr	VAR_071680	rs879255709
9	SCN8A	p.Arg1872Trp	VAR_071681	rs796053228
10	SCN8A	p.Arg223Gly	VAR_072182	rs672601319
11	SCN8A	p.Thr767Ile	VAR_072183	rs797045013
12	SCN8A	p.Ala890Thr	VAR_076605	rs879255702
13	SCN8A	p.Asn984Lys	VAR_076607	rs876657399
14	SCN8A	p.Gly1451Ser	VAR_076609	rs863223345
15	SCN8A	p.Arg1872Leu	VAR_076615	rs796053229
16	SCN8A	p.Arg1872Gln	VAR_076616	rs796053229
17	SCN8A	p.Asn1877Ser	VAR_076617	rs587780455
18	SCN8A	p.Ser978Gly	VAR_078203	rs105751954
19	SCN8A	p.Gly1475Arg	VAR_078204	rs796053216
20	SCN8A	p.Leu1279Val	VAR_078613
21	SCN8A	p.Phe210Leu	VAR_078752
22	SCN8A	p.Ser232Pro	VAR_079722
23	SCN8A	p.Arg850Glu	VAR_079723
24	SCN8A	p.Val891Met	VAR_079724
25	SCN8A	p.Val1598Ala	VAR_079725

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

⁶ (show top 50) (show all 113)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SCN8A	NM_014191.3(SCN8A): c.5302A> G (p.Asn1768Asp)	single nucleotide variant	Pathogenic	rs202151337	GRCh37	Chromosome 12, 52200572: 52200572
2	SCN8A	NM_014191.3(SCN8A): c.5302A> G (p.Asn1768Asp)	single nucleotide variant	Pathogenic	rs202151337	GRCh38	Chromosome 12, 51806788: 51806788
3	SCN8A	NM_014191.3(SCN8A): c.3991C> G (p.Leu1331Val)	single nucleotide variant	Pathogenic	rs397514738	GRCh37	Chromosome 12, 52180374: 52180374
4	SCN8A	NM_014191.3(SCN8A): c.3991C> G (p.Leu1331Val)	single nucleotide variant	Pathogenic	rs397514738	GRCh38	Chromosome 12, 51786590: 51786590
5	SCN8A	NM_014191.3(SCN8A): c.4748T> C (p.Ile1583Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201458257	GRCh37	Chromosome 12, 52188378: 52188378
6	SCN8A	NM_014191.3(SCN8A): c.4748T> C (p.Ile1583Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201458257	GRCh38	Chromosome 12, 51794594: 51794594
7	SCN8A	NM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu)	single nucleotide variant	Likely pathogenic	rs587780454	GRCh37	Chromosome 12, 52188404: 52188404
8	SCN8A	NM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu)	single nucleotide variant	Likely pathogenic	rs587780454	GRCh38	Chromosome 12, 51794620: 51794620
9	SCN8A	NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587780455	GRCh37	Chromosome 12, 52200900: 52200900
10	SCN8A	NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587780455	GRCh38	Chromosome 12, 51807116: 51807116
11	SCN8A	NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587780586	GRCh37	Chromosome 12, 52159459: 52159459
12	SCN8A	NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs587780586	GRCh38	Chromosome 12, 51765675: 51765675
13	SCN8A	NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln)	single nucleotide variant	Pathogenic	rs587777721	GRCh38	Chromosome 12, 51806336: 51806336
14	SCN8A	NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln)	single nucleotide variant	Pathogenic	rs587777721	GRCh37	Chromosome 12, 52200120: 52200120
15	SCN8A	NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys)	single nucleotide variant	Pathogenic	rs587777722	GRCh38	Chromosome 12, 51789397: 51789397
16	SCN8A	NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys)	single nucleotide variant	Pathogenic	rs587777722	GRCh37	Chromosome 12, 52183181: 52183181
17	SCN8A	NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr)	single nucleotide variant	Pathogenic	rs587777723	GRCh38	Chromosome 12, 51789396: 51789396
18	SCN8A	NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr)	single nucleotide variant	Pathogenic	rs587777723	GRCh37	Chromosome 12, 52183180: 52183180
19	SCN8A	NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly)	single nucleotide variant	Pathogenic	rs672601319	GRCh37	Chromosome 12, 52082594: 52082594
20	SCN8A	NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly)	single nucleotide variant	Pathogenic	rs672601319	GRCh38	Chromosome 12, 51688810: 51688810
21	SCN8A	NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys)	single nucleotide variant	Pathogenic	rs876657399	GRCh38	Chromosome 12, 51768915: 51768915
22	SCN8A	NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys)	single nucleotide variant	Pathogenic	rs876657399	GRCh37	Chromosome 12, 52162699: 52162699
23	SCN8A	NM_014191.3(SCN8A): c.4351G> A (p.Gly1451Ser)	single nucleotide variant	Uncertain significance	rs863223345	GRCh37	Chromosome 12, 52183134: 52183134
24	SCN8A	NM_014191.3(SCN8A): c.4351G> A (p.Gly1451Ser)	single nucleotide variant	Uncertain significance	rs863223345	GRCh38	Chromosome 12, 51789350: 51789350
25	SCN8A	NM_014191.3(SCN8A): c.3985A> G (p.Asn1329Asp)	single nucleotide variant	Likely pathogenic	rs794727362	GRCh37	Chromosome 12, 52180368: 52180368
26	SCN8A	NM_014191.3(SCN8A): c.3985A> G (p.Asn1329Asp)	single nucleotide variant	Likely pathogenic	rs794727362	GRCh38	Chromosome 12, 51786584: 51786584
27	SCN8A	NM_014191.3(SCN8A): c.457A> C (p.Asn153His)	single nucleotide variant	Uncertain significance	rs796053232	GRCh37	Chromosome 12, 52080213: 52080213
28	SCN8A	NM_014191.3(SCN8A): c.457A> C (p.Asn153His)	single nucleotide variant	Uncertain significance	rs796053232	GRCh38	Chromosome 12, 51686429: 51686429
29	SCN8A	NM_014191.3(SCN8A): c.4423G> A (p.Gly1475Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs796053216	GRCh37	Chromosome 12, 52184185: 52184185
30	SCN8A	NM_014191.3(SCN8A): c.4423G> A (p.Gly1475Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs796053216	GRCh38	Chromosome 12, 51790401: 51790401
31	SCN8A	NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val)	single nucleotide variant	Pathogenic	rs796053217	GRCh37	Chromosome 12, 52184197: 52184197
32	SCN8A	NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val)	single nucleotide variant	Pathogenic	rs796053217	GRCh38	Chromosome 12, 51790413: 51790413
33	SCN8A	NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp)	single nucleotide variant	Pathogenic	rs796053228	GRCh38	Chromosome 12, 51807100: 51807100
34	SCN8A	NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp)	single nucleotide variant	Pathogenic	rs796053228	GRCh37	Chromosome 12, 52200884: 52200884
35	SCN8A	NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile)	single nucleotide variant	Pathogenic	rs797045013	GRCh37	Chromosome 12, 52145307: 52145307
36	SCN8A	NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile)	single nucleotide variant	Pathogenic	rs797045013	GRCh38	Chromosome 12, 51751523: 51751523
37	SCN8A	NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly)	single nucleotide variant	Pathogenic	rs863225295	GRCh38	Chromosome 12, 51765801: 51765801
38	SCN8A	NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly)	single nucleotide variant	Pathogenic	rs863225295	GRCh37	Chromosome 12, 52159585: 52159585
39	SCN8A	NM_014191.3(SCN8A): c.5276A> G (p.Asn1759Ser)	single nucleotide variant	Likely pathogenic	rs869312690	GRCh37	Chromosome 12, 52200546: 52200546
40	SCN8A	NM_014191.3(SCN8A): c.5276A> G (p.Asn1759Ser)	single nucleotide variant	Likely pathogenic	rs869312690	GRCh38	Chromosome 12, 51806762: 51806762
41	SCN8A	NM_014191.3(SCN8A): c.4813A> G (p.Ile1605Val)	single nucleotide variant	Pathogenic	rs879255706	GRCh37	Chromosome 12, 52200083: 52200083
42	SCN8A	NM_014191.3(SCN8A): c.4813A> G (p.Ile1605Val)	single nucleotide variant	Pathogenic	rs879255706	GRCh38	Chromosome 12, 51806299: 51806299
43	SCN8A	NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu)	single nucleotide variant	Pathogenic	rs879255693	GRCh37	Chromosome 12, 52082556: 52082556
44	SCN8A	NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu)	single nucleotide variant	Pathogenic	rs879255693	GRCh38	Chromosome 12, 51688772: 51688772
45	SCN8A	NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp)	single nucleotide variant	Pathogenic	rs879255694	GRCh38	Chromosome 12, 51688784: 51688784
46	SCN8A	NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp)	single nucleotide variant	Pathogenic	rs879255694	GRCh37	Chromosome 12, 52082568: 52082568
47	SCN8A	NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg)	single nucleotide variant	Pathogenic	rs879255695	GRCh37	Chromosome 12, 52082570: 52082570
48	SCN8A	NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg)	single nucleotide variant	Pathogenic	rs879255695	GRCh38	Chromosome 12, 51688786: 51688786
49	SCN8A	NM_014191.3(SCN8A): c.647T> A (p.Val216Asp)	single nucleotide variant	Pathogenic	rs879255696	GRCh38	Chromosome 12, 51688790: 51688790
50	SCN8A	NM_014191.3(SCN8A): c.647T> A (p.Val216Asp)	single nucleotide variant	Pathogenic	rs879255696	GRCh37	Chromosome 12, 52082574: 52082574

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Expression for Epileptic Encephalopathy, Early Infantile, 13

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 13.

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Pathways for Epileptic Encephalopathy, Early Infantile, 13

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GO Terms for Epileptic Encephalopathy, Early Infantile, 13

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Sources for Epileptic Encephalopathy, Early Infantile, 13

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Epileptic Encephalopathy, Early Infantile, 13 (EIEE13)

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 13

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 13:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epileptic Encephalopathy, Early Infantile, 13

Related Diseases for Epileptic Encephalopathy, Early Infantile, 13

Diseases in the Early Infantile Epileptic Encephalopathy family:

Diseases related to Epileptic Encephalopathy, Early Infantile, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 13

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 13:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 13

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 13

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 13:

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 13

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 13:

Publications for Epileptic Encephalopathy, Early Infantile, 13

Articles related to Epileptic Encephalopathy, Early Infantile, 13:

Genes for Epileptic Encephalopathy, Early Infantile, 13

Genes related to Epileptic Encephalopathy, Early Infantile, 13 (1 elite genes):

Variations for Epileptic Encephalopathy, Early Infantile, 13

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

Expression for Epileptic Encephalopathy, Early Infantile, 13

Pathways for Epileptic Encephalopathy, Early Infantile, 13

GO Terms for Epileptic Encephalopathy, Early Infantile, 13

Sources for Epileptic Encephalopathy, Early Infantile, 13