EIEE8
MCID: EPL038
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 8 (EIEE8)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 8

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

Name: Epileptic Encephalopathy, Early Infantile, 8 58 76 13
Early Infantile Epileptic Encephalopathy 8 12 30 6
Hyperekplexia and Epilepsy 58 74
Eiee8 58 76
Encephalopathy, Epileptic, Early Infantile, Type 8 41
Hyperekplexia-Epilepsy Syndrome 60
Startle Disease with Epilepsy 76
Hyperekplexia with Epilepsy 76
Reflex, Startle 45

Characteristics:

Orphanet epidemiological data:

60
hyperekplexia-epilepsy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Miscellaneous:
onset at birth

Inheritance:
x-linked recessive


HPO:

33
epileptic encephalopathy, early infantile, 8:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080215
OMIM 58 300607
ICD10 via Orphanet 35 G25.8
UMLS via Orphanet 75 C1845102
Orphanet 60 ORPHA163985
MedGen 43 C1845102
UMLS 74 C1845102

Summaries for Epileptic Encephalopathy, Early Infantile, 8

OMIM : 58 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, is also known as early infantile epileptic encephalopathy 8, 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). Affiliated tissues include liver and eye, and related phenotypes are hypertonia and exaggerated startle response

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has material basis in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.

UniProtKB/Swiss-Prot : 76 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 Early 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, 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 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 8

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

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 60 33 Frequent (79-30%) HP:0001276
2 exaggerated startle response 60 33 Frequent (79-30%) HP:0002267
3 epileptic encephalopathy 60 33 Frequent (79-30%) HP:0200134
4 seizures 33 HP:0001250
5 developmental regression 60 Frequent (79-30%)
6 intellectual disability, severe 33 HP:0010864
7 intellectual disability, progressive 33 HP:0006887
8 focal impaired awareness seizure 60 Frequent (79-30%)
9 hypoplasia of the frontal lobes 60 Frequent (79-30%)
10 generalized tonic seizures 60 Frequent (79-30%)
11 eeg with temporal focal spikes 60 Frequent (79-30%)
12 trigonocephaly 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hypertonia
exaggerated startle response
mental retardation, severe
seizures, tonic, hyperekplectic
seizures provoked by tactile stimulation or extreme emotion
more

Clinical features from OMIM:

300607

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 30 ARHGEF9

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 8

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 8:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 8

Articles related to Epileptic Encephalopathy, Early Infantile, 8:

# Title Authors Year
1
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. ( 21633362 )
2011
2
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. ( 15215304 )
2004

Variations for Epileptic Encephalopathy, Early Infantile, 8

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

76
# 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 top 50) (show all 66)
# 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.28A> G (p.Ile10Val) single nucleotide variant Conflicting interpretations of pathogenicity rs55868891 GRCh37 Chromosome X, 62944573: 62944573
6 ARHGEF9 NM_015185.2(ARHGEF9): c.28A> G (p.Ile10Val) single nucleotide variant Conflicting interpretations of pathogenicity rs55868891 GRCh38 Chromosome X, 63724693: 63724693
7 ARHGEF9 NM_015185.2(ARHGEF9): c.1039A> C (p.Met347Leu) single nucleotide variant Uncertain significance rs782248986 GRCh37 Chromosome X, 62885783: 62885783
8 ARHGEF9 NM_015185.2(ARHGEF9): c.1039A> C (p.Met347Leu) single nucleotide variant Uncertain significance rs782248986 GRCh38 Chromosome X, 63665903: 63665903
9 ARHGEF9 NM_015185.2(ARHGEF9): c.918C> G (p.Asp306Glu) single nucleotide variant Benign/Likely benign rs143490560 GRCh37 Chromosome X, 62893924: 62893924
10 ARHGEF9 NM_015185.2(ARHGEF9): c.918C> G (p.Asp306Glu) single nucleotide variant Benign/Likely benign rs143490560 GRCh38 Chromosome X, 63674044: 63674044
11 ARHGEF9 NM_015185.2(ARHGEF9): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs150129110 GRCh37 Chromosome X, 62917005: 62917005
12 ARHGEF9 NM_015185.2(ARHGEF9): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs150129110 GRCh38 Chromosome X, 63697125: 63697125
13 ARHGEF9 NM_015185.2(ARHGEF9): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs1135401795 GRCh37 Chromosome X, 62893977: 62893977
14 ARHGEF9 NM_015185.2(ARHGEF9): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs1135401795 GRCh38 Chromosome X, 63674097: 63674097
15 ARHGEF9 NM_015185.2(ARHGEF9): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic rs1556401714 GRCh37 Chromosome X, 62926208: 62926208
16 ARHGEF9 NM_015185.2(ARHGEF9): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic rs1556401714 GRCh38 Chromosome X, 63706328: 63706328
17 ARHGEF9 NM_015185.2(ARHGEF9): c.351C> T (p.His117=) single nucleotide variant Conflicting interpretations of pathogenicity rs138198839 GRCh38 Chromosome X, 63706288: 63706288
18 ARHGEF9 NM_015185.2(ARHGEF9): c.351C> T (p.His117=) single nucleotide variant Conflicting interpretations of pathogenicity rs138198839 GRCh37 Chromosome X, 62926168: 62926168
19 ARHGEF9 NM_015185.2(ARHGEF9): c.1399T> C (p.Ser467Pro) single nucleotide variant Uncertain significance rs1556301359 GRCh38 Chromosome X, 63638180: 63638180
20 ARHGEF9 NM_015185.2(ARHGEF9): c.1399T> C (p.Ser467Pro) single nucleotide variant Uncertain significance rs1556301359 GRCh37 Chromosome X, 62858060: 62858060
21 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> T single nucleotide variant Likely benign rs1464003224 GRCh38 Chromosome X, 63678332: 63678332
22 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> T single nucleotide variant Likely benign rs1464003224 GRCh37 Chromosome X, 62898212: 62898212
23 ARHGEF9 NM_015185.2(ARHGEF9): c.543A> G (p.Gly181=) single nucleotide variant Likely benign rs782187939 GRCh38 Chromosome X, 63697143: 63697143
24 ARHGEF9 NM_015185.2(ARHGEF9): c.543A> G (p.Gly181=) single nucleotide variant Likely benign rs782187939 GRCh37 Chromosome X, 62917023: 62917023
25 ARHGEF9 NM_015185.2(ARHGEF9): c.1467G> A (p.Ser489=) single nucleotide variant Likely benign rs782580975 GRCh37 Chromosome X, 62857992: 62857992
26 ARHGEF9 NM_015185.2(ARHGEF9): c.1467G> A (p.Ser489=) single nucleotide variant Likely benign rs782580975 GRCh38 Chromosome X, 63638112: 63638112
27 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> G single nucleotide variant Likely benign rs1464003224 GRCh37 Chromosome X, 62898212: 62898212
28 ARHGEF9 NM_015185.2(ARHGEF9): c.794+8A> G single nucleotide variant Likely benign rs1464003224 GRCh38 Chromosome X, 63678332: 63678332
29 ARHGEF9 NM_015185.2(ARHGEF9): c.243C> T (p.Asn81=) single nucleotide variant Likely benign rs782671712 GRCh37 Chromosome X, 62926276: 62926276
30 ARHGEF9 NM_015185.2(ARHGEF9): c.243C> T (p.Asn81=) single nucleotide variant Likely benign rs782671712 GRCh38 Chromosome X, 63706396: 63706396
31 ARHGEF9 NM_015185.2(ARHGEF9): c.1272G> A (p.Arg424=) single nucleotide variant Likely benign rs782387990 GRCh37 Chromosome X, 62875402: 62875402
32 ARHGEF9 NM_015185.2(ARHGEF9): c.1272G> A (p.Arg424=) single nucleotide variant Likely benign rs782387990 GRCh38 Chromosome X, 63655522: 63655522
33 ARHGEF9 NM_015185.2(ARHGEF9): c.1204A> G (p.Ile402Val) single nucleotide variant Likely benign rs56110425 GRCh37 Chromosome X, 62875470: 62875470
34 ARHGEF9 NM_015185.2(ARHGEF9): c.1204A> G (p.Ile402Val) single nucleotide variant Likely benign rs56110425 GRCh38 Chromosome X, 63655590: 63655590
35 ARHGEF9 NM_015185.2(ARHGEF9): c.330G> A (p.Glu110=) single nucleotide variant Conflicting interpretations of pathogenicity rs373866956 GRCh37 Chromosome X, 62926189: 62926189
36 ARHGEF9 NM_015185.2(ARHGEF9): c.330G> A (p.Glu110=) single nucleotide variant Conflicting interpretations of pathogenicity rs373866956 GRCh38 Chromosome X, 63706309: 63706309
37 ARHGEF9 NM_015185.2(ARHGEF9): c.541G> C (p.Gly181Arg) single nucleotide variant Likely pathogenic rs1556389083 GRCh37 Chromosome X, 62917025: 62917025
38 ARHGEF9 NM_015185.2(ARHGEF9): c.541G> C (p.Gly181Arg) single nucleotide variant Likely pathogenic rs1556389083 GRCh38 Chromosome X, 63697145: 63697145
39 ARHGEF9 NM_015185.2(ARHGEF9): c.1459G> A (p.Ala487Thr) single nucleotide variant Uncertain significance rs1556301016 GRCh37 Chromosome X, 62858000: 62858000
40 ARHGEF9 NM_015185.2(ARHGEF9): c.1459G> A (p.Ala487Thr) single nucleotide variant Uncertain significance rs1556301016 GRCh38 Chromosome X, 63638120: 63638120
41 ARHGEF9 NM_015185.2(ARHGEF9): c.562-8dup duplication Likely benign rs782366734 GRCh38 Chromosome X, 63678580: 63678580
42 ARHGEF9 NM_015185.2(ARHGEF9): c.562-8dup duplication Likely benign rs782366734 GRCh37 Chromosome X, 62898460: 62898460
43 ARHGEF9 NM_015185.2(ARHGEF9): c.557A> G (p.Glu186Gly) single nucleotide variant Uncertain significance rs1556388997 GRCh37 Chromosome X, 62917009: 62917009
44 ARHGEF9 NM_015185.2(ARHGEF9): c.557A> G (p.Glu186Gly) single nucleotide variant Uncertain significance rs1556388997 GRCh38 Chromosome X, 63697129: 63697129
45 ARHGEF9 NM_015185.2(ARHGEF9): c.1515G> A (p.Trp505Ter) single nucleotide variant Uncertain significance rs1556300769 GRCh38 Chromosome X, 63638064: 63638064
46 ARHGEF9 NM_015185.2(ARHGEF9): c.1515G> A (p.Trp505Ter) single nucleotide variant Uncertain significance rs1556300769 GRCh37 Chromosome X, 62857944: 62857944
47 ARHGEF9 NM_001173480.1(ARHGEF9): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic rs1556358991 GRCh37 Chromosome X, 62893943: 62893943
48 ARHGEF9 NM_001173480.1(ARHGEF9): c.593G> A (p.Trp198Ter) single nucleotide variant Pathogenic rs1556358991 GRCh38 Chromosome X, 63674063: 63674063
49 ARHGEF9 NM_015185.2(ARHGEF9): c.1453G> A (p.Gly485Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 63638126: 63638126
50 ARHGEF9 NM_015185.2(ARHGEF9): c.1453G> A (p.Gly485Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 62858006: 62858006

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

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