MCID: EPL038
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 8

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 8

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 8:

Name: Epileptic Encephalopathy, Early Infantile, 8 57 75 13
Early Infantile Epileptic Encephalopathy 8 12 29 6
Hyperekplexia and Epilepsy 57 73
Eiee8 57 75
Encephalopathy, Epileptic, Early Infantile, Type 8 40
Hyperekplexia-Epilepsy Syndrome 59
Startle Disease with Epilepsy 75
Hyperekplexia with Epilepsy 75
Reflex, Startle 44

Characteristics:

Orphanet epidemiological data:

59
hyperekplexia-epilepsy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
onset at birth


HPO:

32
epileptic encephalopathy, early infantile, 8:
Inheritance x-linked recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300607
Disease Ontology 12 DOID:0080215
Orphanet 59 ORPHA163985
ICD10 via Orphanet 34 G25.8
UMLS via Orphanet 74 C1845102
MedGen 42 C1845102
UMLS 73 C1845102

Summaries for Epileptic Encephalopathy, Early Infantile, 8

OMIM : 57 Early infantile epileptic encephalopathy-8 is an X-linked disorder characterized by seizure onset before 2 years of age and severe developmental delay. Some patients have hyperekplexia (summary by Shimojima et al., 2011). For general phenotypic descriptions and discussions of genetic heterogeneity of early infantile epileptic encephalopathy and hyperekplexia, see EIEE1 (308350) and hereditary hyperekplexia (149400), respectively. (300607)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 8, also known as early infantile epileptic encephalopathy 8, is related to jumping frenchmen of maine, and has symptoms including reflex, abnormal and hyperexplexia. An important gene associated with Epileptic Encephalopathy, Early Infantile, 8 is ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9). Related phenotypes are seizures and hypertonia

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 8: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 8

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 59
Epileptic Encephalopathy, Early Infantile, 60 Epileptic Encephalopathy, Early Infantile, 61
Epileptic Encephalopathy, Early Infantile, 62 Epileptic Encephalopathy, Early Infantile, 63
Epileptic Encephalopathy, Early Infantile, 64 Epileptic Encephalopathy, Early Infantile, 65
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Diseases related to Epileptic Encephalopathy, Early Infantile, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 jumping frenchmen of maine 11.2

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 8

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hypertonia
exaggerated startle response
seizures, tonic, hyperekplectic
seizures provoked by tactile stimulation or extreme emotion
seizures are poorly controlled
more

Clinical features from OMIM:

300607

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 8:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hypertonia 32 HP:0001276
3 intellectual disability, severe 32 HP:0010864
4 intellectual disability, progressive 32 HP:0006887
5 epileptic encephalopathy 32 HP:0200134
6 exaggerated startle response 32 HP:0002267

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 8:


reflex, abnormal, hyperexplexia

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 8

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 8

Cochrane evidence based reviews: reflex, startle

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 8

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 8:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 8 29 ARHGEF9

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 8

Publications for Epileptic Encephalopathy, Early Infantile, 8

Variations for Epileptic Encephalopathy, Early Infantile, 8

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 8:

75
# Symbol AA change Variation ID SNP ID
1 ARHGEF9 p.Gly55Ala VAR_028752 rs121918361
2 ARHGEF9 p.Arg290His VAR_072742

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 8:

6
(show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARHGEF9 NM_015185.2(ARHGEF9): c.164G> C (p.Gly55Ala) single nucleotide variant Pathogenic rs121918361 GRCh37 Chromosome X, 62944437: 62944437
2 ARHGEF9 NM_015185.2(ARHGEF9): c.164G> C (p.Gly55Ala) single nucleotide variant Pathogenic rs121918361 GRCh38 Chromosome X, 63724557: 63724557
3 ARHGEF9 NM_001173479.1(ARHGEF9): c.4C> T (p.Gln2Ter) single nucleotide variant Pathogenic rs397514460 GRCh37 Chromosome X, 63005022: 63005022
4 ARHGEF9 NM_001173479.1(ARHGEF9): c.4C> T (p.Gln2Ter) single nucleotide variant Pathogenic rs397514460 GRCh38 Chromosome X, 63785142: 63785142
5 ARHGEF9 NM_015185.2(ARHGEF9): c.918C> G (p.Asp306Glu) single nucleotide variant Benign/Likely benign rs143490560 GRCh37 Chromosome X, 62893924: 62893924
6 ARHGEF9 NM_015185.2(ARHGEF9): c.918C> G (p.Asp306Glu) single nucleotide variant Benign/Likely benign rs143490560 GRCh38 Chromosome X, 63674044: 63674044
7 ARHGEF9 NM_015185.2(ARHGEF9): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs150129110 GRCh37 Chromosome X, 62917005: 62917005
8 ARHGEF9 NM_015185.2(ARHGEF9): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs150129110 GRCh38 Chromosome X, 63697125: 63697125
9 ARHGEF9 NM_015185.2(ARHGEF9): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs1135401795 GRCh37 Chromosome X, 62893977: 62893977
10 ARHGEF9 NM_015185.2(ARHGEF9): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs1135401795 GRCh38 Chromosome X, 63674097: 63674097
11 ARHGEF9 NM_015185.2(ARHGEF9): c.351C> T (p.His117=) single nucleotide variant Conflicting interpretations of pathogenicity rs138198839 GRCh38 Chromosome X, 63706288: 63706288
12 ARHGEF9 NM_015185.2(ARHGEF9): c.351C> T (p.His117=) single nucleotide variant Conflicting interpretations of pathogenicity rs138198839 GRCh37 Chromosome X, 62926168: 62926168
13 ARHGEF9 NM_015185.2(ARHGEF9): c.1399T> C (p.Ser467Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 63638180: 63638180
14 ARHGEF9 NM_015185.2(ARHGEF9): c.1399T> C (p.Ser467Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 62858060: 62858060
15 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> T single nucleotide variant Likely benign GRCh38 Chromosome X, 63678332: 63678332
16 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> T single nucleotide variant Likely benign GRCh37 Chromosome X, 62898212: 62898212
17 ARHGEF9 NM_015185.2(ARHGEF9): c.543A> G (p.Gly181=) single nucleotide variant Likely benign rs782187939 GRCh38 Chromosome X, 63697143: 63697143
18 ARHGEF9 NM_015185.2(ARHGEF9): c.543A> G (p.Gly181=) single nucleotide variant Likely benign rs782187939 GRCh37 Chromosome X, 62917023: 62917023
19 ARHGEF9 NM_015185.2(ARHGEF9): c.1467G> A (p.Ser489=) single nucleotide variant Likely benign rs782580975 GRCh37 Chromosome X, 62857992: 62857992
20 ARHGEF9 NM_015185.2(ARHGEF9): c.1467G> A (p.Ser489=) single nucleotide variant Likely benign rs782580975 GRCh38 Chromosome X, 63638112: 63638112
21 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> G single nucleotide variant Likely benign GRCh37 Chromosome X, 62898212: 62898212
22 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> G single nucleotide variant Likely benign GRCh38 Chromosome X, 63678332: 63678332
23 ARHGEF9 NM_015185.2(ARHGEF9): c.243C> T (p.Asn81=) single nucleotide variant Likely benign rs782671712 GRCh37 Chromosome X, 62926276: 62926276
24 ARHGEF9 NM_015185.2(ARHGEF9): c.243C> T (p.Asn81=) single nucleotide variant Likely benign rs782671712 GRCh38 Chromosome X, 63706396: 63706396
25 ARHGEF9 NM_015185.2(ARHGEF9): c.1272G> A (p.Arg424=) single nucleotide variant Likely benign rs782387990 GRCh38 Chromosome X, 63655522: 63655522
26 ARHGEF9 NM_015185.2(ARHGEF9): c.1272G> A (p.Arg424=) single nucleotide variant Likely benign rs782387990 GRCh37 Chromosome X, 62875402: 62875402
27 ARHGEF9 NM_015185.2(ARHGEF9): c.1204A> G (p.Ile402Val) single nucleotide variant Likely benign rs56110425 GRCh37 Chromosome X, 62875470: 62875470
28 ARHGEF9 NM_015185.2(ARHGEF9): c.1204A> G (p.Ile402Val) single nucleotide variant Likely benign rs56110425 GRCh38 Chromosome X, 63655590: 63655590
29 ARHGEF9 NM_015185.2(ARHGEF9): c.330G> A (p.Glu110=) single nucleotide variant Conflicting interpretations of pathogenicity rs373866956 GRCh37 Chromosome X, 62926189: 62926189
30 ARHGEF9 NM_015185.2(ARHGEF9): c.330G> A (p.Glu110=) single nucleotide variant Conflicting interpretations of pathogenicity rs373866956 GRCh38 Chromosome X, 63706309: 63706309
31 ARHGEF9 NM_015185.2(ARHGEF9): c.541G> C (p.Gly181Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 62917025: 62917025
32 ARHGEF9 NM_015185.2(ARHGEF9): c.541G> C (p.Gly181Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 63697145: 63697145
33 ARHGEF9 NM_015185.2(ARHGEF9): c.1459G> A (p.Ala487Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 62858000: 62858000
34 ARHGEF9 NM_015185.2(ARHGEF9): c.1459G> A (p.Ala487Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 63638120: 63638120
35 ARHGEF9 NM_015185.2(ARHGEF9): c.562-8dup duplication Likely benign GRCh37 Chromosome X, 62898460: 62898460
36 ARHGEF9 NM_015185.2(ARHGEF9): c.562-8dup duplication Likely benign GRCh38 Chromosome X, 63678580: 63678580
37 ARHGEF9 NM_015185.2(ARHGEF9): c.557A> G (p.Glu186Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 62917009: 62917009
38 ARHGEF9 NM_015185.2(ARHGEF9): c.557A> G (p.Glu186Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 63697129: 63697129
39 ARHGEF9 NM_015185.2(ARHGEF9): c.1515G> A (p.Trp505Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 62857944: 62857944
40 ARHGEF9 NM_015185.2(ARHGEF9): c.1515G> A (p.Trp505Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 63638064: 63638064
41 ARHGEF9 NM_001173480.1(ARHGEF9): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 62893943: 62893943
42 ARHGEF9 NM_001173480.1(ARHGEF9): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 63674063: 63674063

Expression for Epileptic Encephalopathy, Early Infantile, 8

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 8.

Pathways for Epileptic Encephalopathy, Early Infantile, 8

GO Terms for Epileptic Encephalopathy, Early Infantile, 8

Sources for Epileptic Encephalopathy, Early Infantile, 8

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71 TGDB
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74 UMLS via Orphanet
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