MCID: EPL214
MIFTS: 14

Epileptic Encephalopathy, Infantile or Early Childhood, 2

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epileptic Encephalopathy, Infantile or Early Childhood, 2

MalaCards integrated aliases for Epileptic Encephalopathy, Infantile or Early Childhood, 2:

Name: Epileptic Encephalopathy, Infantile or Early Childhood, 2 57 75 6
Iecee2 57 75
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
variable age at seizure onset (range early infancy to 6 years)
seizures are refractory in some patients
de novo mutation


Classifications:



External Ids:

OMIM 57 617829
MedGen 42 CN757794
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Infantile or Early Childhood, 2

OMIM : 57 IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017). For a discussion of genetic heterogeneity of IECEE, see IECEE1 (617711). (617829)

MalaCards based summary : Epileptic Encephalopathy, Infantile or Early Childhood, 2, is also known as iecee2. An important gene associated with Epileptic Encephalopathy, Infantile or Early Childhood, 2 is GABRB2 (Gamma-Aminobutyric Acid Type A Receptor Beta2 Subunit). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, infantile or early childhood, 2: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years.

Related Diseases for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Symptoms & Phenotypes for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
cortical visual impairment

Neurologic Central Nervous System:
delayed psychomotor development
epileptic encephalopathy
intellectual disability, mild to profound
poor or absent speech
lethargy
more

Clinical features from OMIM:

617829

Drugs & Therapeutics for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Genetic Tests for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Anatomical Context for Epileptic Encephalopathy, Infantile or Early Childhood, 2

MalaCards organs/tissues related to Epileptic Encephalopathy, Infantile or Early Childhood, 2:

41
Brain

Publications for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Variations for Epileptic Encephalopathy, Infantile or Early Childhood, 2

ClinVar genetic disease variations for Epileptic Encephalopathy, Infantile or Early Childhood, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GABRB2 NM_021911.2(GABRB2): c.236T> C (p.Met79Thr) single nucleotide variant Pathogenic rs606231468 GRCh38 Chromosome 5, 161545228: 161545228
2 GABRB2 NM_021911.2(GABRB2): c.236T> C (p.Met79Thr) single nucleotide variant Pathogenic rs606231468 GRCh37 Chromosome 5, 160972234: 160972234
3 GABRB2 NM_021911.2(GABRB2): c.859A> C (p.Thr287Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161331101: 161331101
4 GABRB2 NM_021911.2(GABRB2): c.859A> C (p.Thr287Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160758108: 160758108
5 GABRB2 NM_021911.2(GABRB2): c.908A> G (p.Lys303Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160758059: 160758059
6 GABRB2 NM_021911.2(GABRB2): c.908A> G (p.Lys303Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161331052: 161331052
7 GABRB2 NM_021911.2(GABRB2): c.730T> C (p.Tyr244His) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160761861: 160761861
8 GABRB2 NM_021911.2(GABRB2): c.730T> C (p.Tyr244His) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161334854: 161334854
9 GABRB2 NM_021911.2(GABRB2): c.830T> C (p.Leu277Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160761761: 160761761
10 GABRB2 NM_021911.2(GABRB2): c.830T> C (p.Leu277Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161334754: 161334754

Expression for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Search GEO for disease gene expression data for Epileptic Encephalopathy, Infantile or Early Childhood, 2.

Pathways for Epileptic Encephalopathy, Infantile or Early Childhood, 2

GO Terms for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Sources for Epileptic Encephalopathy, Infantile or Early Childhood, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....