EIEE8
MCID: EPL038
MIFTS: 27

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 57 74 13
Early Infantile Epileptic Encephalopathy 8 12 29 6
Hyperekplexia and Epilepsy 57 72
Eiee8 57 74
Encephalopathy, Epileptic, Early Infantile, Type 8 40
Hyperekplexia-Epilepsy Syndrome 59
Startle Disease with Epilepsy 74
Hyperekplexia with Epilepsy 74
Reflex, Startle 44

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Miscellaneous:
onset at birth

Inheritance:
x-linked recessive


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080215
ICD10 via Orphanet 34 G25.8
UMLS via Orphanet 73 C1845102
Orphanet 59 ORPHA163985
MedGen 42 C1845102
UMLS 72 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, 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). Related phenotypes are developmental regression and hypertonia

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 : 74 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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 8

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

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
2 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
3 exaggerated startle response 59 32 frequent (33%) Frequent (79-30%) HP:0002267
4 focal impaired awareness seizure 59 32 frequent (33%) Frequent (79-30%) HP:0002384
5 hypoplasia of the frontal lobes 59 32 frequent (33%) Frequent (79-30%) HP:0007333
6 generalized tonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0010818
7 eeg with temporal focal spikes 59 32 frequent (33%) Frequent (79-30%) HP:0012018
8 epileptic encephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0200134
9 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
10 seizures 32 HP:0001250
11 intellectual disability, severe 32 HP:0010864
12 intellectual disability, progressive 32 HP:0006887

Symptoms via clinical synopsis from OMIM:

57
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 29 ARHGEF9

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 8

Publications for Epileptic Encephalopathy, Early Infantile, 8

Articles related to Epileptic Encephalopathy, Early Infantile, 8:

# Title Authors PMID Year
1
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 8 71
21633362 2011
2
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. 8 71
15215304 2004
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
5
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. 8
17893116 2008
6
Hyperekplexia 71
20301437 2007
7
[Epilepsies during the first year of life]. 38
9462971 1997

Variations for Epileptic Encephalopathy, Early Infantile, 8

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

6 (show all 44)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF9 NM_015185.3(ARHGEF9): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs1135401795 X:62893977-62893977 X:63674097-63674097
2 ARHGEF9 NM_015185.3(ARHGEF9): c.311G> A (p.Arg104Gln) single nucleotide variant Pathogenic rs1556401714 X:62926208-62926208 X:63706328-63706328
3 ARHGEF9 NM_015185.3(ARHGEF9): c.899G> A (p.Trp300Ter) single nucleotide variant Pathogenic rs1556358991 X:62893943-62893943 X:63674063-63674063
4 ARHGEF9 NM_015185.3(ARHGEF9): c.164G> C (p.Gly55Ala) single nucleotide variant Pathogenic rs121918361 X:62944437-62944437 X:63724557-63724557
5 ARHGEF9 NM_001330495.2(ARHGEF9): c.-158C> T single nucleotide variant Pathogenic rs397514460 X:63005022-63005022 X:63785142-63785142
6 ARHGEF9 NM_015185.3(ARHGEF9): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic X:62893941-62893941 X:63674061-63674061
7 ARHGEF9 NM_015185.3(ARHGEF9): c.561+1G> A single nucleotide variant Likely pathogenic X:62917004-62917004 X:63697124-63697124
8 ARHGEF9 NM_015185.3(ARHGEF9): c.541G> C (p.Gly181Arg) single nucleotide variant Likely pathogenic rs1556389083 X:62917025-62917025 X:63697145-63697145
9 ARHGEF9 NM_015185.3(ARHGEF9): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs150129110 X:62917005-62917005 X:63697125-63697125
10 ARHGEF9 NM_015185.3(ARHGEF9): c.330G> A (p.Glu110=) single nucleotide variant Conflicting interpretations of pathogenicity rs373866956 X:62926189-62926189 X:63706309-63706309
11 ARHGEF9 NM_015185.3(ARHGEF9): c.351C> T (p.His117=) single nucleotide variant Conflicting interpretations of pathogenicity rs138198839 X:62926168-62926168 X:63706288-63706288
12 ARHGEF9 NM_015185.3(ARHGEF9): c.28A> G (p.Ile10Val) single nucleotide variant Conflicting interpretations of pathogenicity rs55868891 X:62944573-62944573 X:63724693-63724693
13 ARHGEF9 NM_015185.3(ARHGEF9): c.1453G> A (p.Gly485Ser) single nucleotide variant Uncertain significance X:62858006-62858006 X:63638126-63638126
14 ARHGEF9 NM_015185.3(ARHGEF9): c.1273A> G (p.Lys425Glu) single nucleotide variant Uncertain significance X:62875401-62875401 X:63655521-63655521
15 ARHGEF9 NM_015185.3(ARHGEF9): c.646C> T (p.Arg216Cys) single nucleotide variant Uncertain significance X:62898368-62898368 X:63678488-63678488
16 ARHGEF9 NM_015185.3(ARHGEF9): c.233A> T (p.Asp78Val) single nucleotide variant Uncertain significance X:62926286-62926286 X:63706406-63706406
17 ARHGEF9 NM_015185.3(ARHGEF9): c.430C> A (p.Gln144Lys) single nucleotide variant Uncertain significance X:62917136-62917136 X:63697256-63697256
18 ARHGEF9 NM_015185.3(ARHGEF9): c.947G> T (p.Ser316Ile) single nucleotide variant Uncertain significance X:62885875-62885875 X:63665995-63665995
19 ARHGEF9 NM_015185.3(ARHGEF9): c.1444G> C (p.Val482Leu) single nucleotide variant Uncertain significance X:62858015-62858015 X:63638135-63638135
20 ARHGEF9 NM_015185.3(ARHGEF9): c.1412C> T (p.Pro471Leu) single nucleotide variant Uncertain significance X:62858047-62858047 X:63638167-63638167
21 ARHGEF9 NM_015185.3(ARHGEF9): c.1368A> G (p.Lys456=) single nucleotide variant Uncertain significance X:62863861-62863861 X:63643981-63643981
22 ARHGEF9 NM_015185.3(ARHGEF9): c.1001G> A (p.Arg334His) single nucleotide variant Uncertain significance X:62885821-62885821 X:63665941-63665941
23 ARHGEF9 NM_015185.3(ARHGEF9): c.767T> C (p.Leu256Pro) single nucleotide variant Uncertain significance X:62898247-62898247 X:63678367-63678367
24 ARHGEF9 NM_015185.3(ARHGEF9): c.618G> A (p.Met206Ile) single nucleotide variant Uncertain significance X:62898396-62898396 X:63678516-63678516
25 ARHGEF9 NM_015185.3(ARHGEF9): c.535G> A (p.Glu179Lys) single nucleotide variant Uncertain significance X:62917031-62917031 X:63697151-63697151
26 ARHGEF9 NM_015185.3(ARHGEF9): c.55C> T (p.His19Tyr) single nucleotide variant Uncertain significance X:62944546-62944546 X:63724666-63724666
27 ARHGEF9 NM_001173479.2(ARHGEF9): c.29T> C (p.Met10Thr) single nucleotide variant Uncertain significance X:63004997-63004997 X:63785117-63785117
28 ARHGEF9 NM_015185.3(ARHGEF9): c.382-3C> T single nucleotide variant Uncertain significance X:62917187-62917187 X:63697307-63697307
29 ARHGEF9 NM_015185.3(ARHGEF9): c.1399T> C (p.Ser467Pro) single nucleotide variant Uncertain significance rs1556301359 X:62858060-62858060 X:63638180-63638180
30 ARHGEF9 NM_015185.3(ARHGEF9): c.1039A> C (p.Met347Leu) single nucleotide variant Uncertain significance rs782248986 X:62885783-62885783 X:63665903-63665903
31 ARHGEF9 NM_015185.3(ARHGEF9): c.1459G> A (p.Ala487Thr) single nucleotide variant Uncertain significance rs1556301016 X:62858000-62858000 X:63638120-63638120
32 ARHGEF9 NM_015185.3(ARHGEF9): c.557A> G (p.Glu186Gly) single nucleotide variant Uncertain significance rs1556388997 X:62917009-62917009 X:63697129-63697129
33 ARHGEF9 NM_015185.3(ARHGEF9): c.1515G> A (p.Trp505Ter) single nucleotide variant Uncertain significance rs1556300769 X:62857944-62857944 X:63638064-63638064
34 ARHGEF9 NM_015185.3(ARHGEF9): c.421A> G (p.Ser141Gly) single nucleotide variant Uncertain significance X:62917145-62917145 X:63697265-63697265
35 ARHGEF9 NM_015185.3(ARHGEF9): c.1381G> T (p.Ala461Ser) single nucleotide variant Uncertain significance X:62858078-62858078 X:63638198-63638198
36 ARHGEF9 NM_015185.2(ARHGEF9): c.562-8dup duplication Likely benign rs782366734 X:62898460-62898460 X:63678580-63678580
37 ARHGEF9 NM_015185.3(ARHGEF9): c.794+8A> T single nucleotide variant Likely benign rs1464003224 X:62898212-62898212 X:63678332-63678332
38 ARHGEF9 NM_015185.3(ARHGEF9): c.543A> G (p.Gly181=) single nucleotide variant Likely benign rs782187939 X:62917023-62917023 X:63697143-63697143
39 ARHGEF9 NM_015185.3(ARHGEF9): c.1467G> A (p.Ser489=) single nucleotide variant Likely benign rs782580975 X:62857992-62857992 X:63638112-63638112
40 ARHGEF9 NM_015185.3(ARHGEF9): c.794+8A> G single nucleotide variant Likely benign rs1464003224 X:62898212-62898212 X:63678332-63678332
41 ARHGEF9 NM_015185.3(ARHGEF9): c.243C> T (p.Asn81=) single nucleotide variant Likely benign rs782671712 X:62926276-62926276 X:63706396-63706396
42 ARHGEF9 NM_015185.3(ARHGEF9): c.1272G> A (p.Arg424=) single nucleotide variant Likely benign rs782387990 X:62875402-62875402 X:63655522-63655522
43 ARHGEF9 NM_015185.3(ARHGEF9): c.1204A> G (p.Ile402Val) single nucleotide variant Likely benign rs56110425 X:62875470-62875470 X:63655590-63655590
44 ARHGEF9 NM_015185.3(ARHGEF9): c.918C> G (p.Asp306Glu) single nucleotide variant Benign/Likely benign rs143490560 X:62893924-62893924 X:63674044-63674044

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

74
# Symbol AA change Variation ID SNP ID
1 ARHGEF9 p.Gly55Ala VAR_028752 rs121918361
2 ARHGEF9 p.Arg290His VAR_072742

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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