IECEE2
MCID: EPL214
MIFTS: 21

Epileptic Encephalopathy, Infantile or Early Childhood, 2 (IECEE2)

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 58 76 30 6
Iecee2 58 76
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 2 41
Infantile or Early Childhood Epileptic Encephalopathy 2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, infantile or early childhood, 2:
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Infantile or Early Childhood, 2

OMIM : 58 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, and related phenotypes are inability to walk and intellectual disability

Disease Ontology : 12 An electroclinical syndrome characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has material basis in heterozygous mutation in the GABRB2 gene on chromosome 5q34.

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Epileptic Encephalopathy, Infantile or Early Childhood, 2:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 inability to walk 33 very rare (1%) HP:0002540
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 spasticity 33 HP:0001257
6 eeg abnormality 33 HP:0002353
7 global developmental delay 33 HP:0001263
8 dyskinesia 33 HP:0100660
9 myoclonus 33 HP:0001336
10 absent speech 33 HP:0001344
11 dystonia 33 HP:0001332
12 epileptic encephalopathy 33 HP:0200134
13 difficulty walking 33 HP:0002355
14 lethargy 33 HP:0001254

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
spasticity
dyskinesia
myoclonus
dystonia
more
Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
cortical visual impairment

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

Genetic tests related to Epileptic Encephalopathy, Infantile or Early Childhood, 2:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Infantile or Early Childhood, 2 30 GABRB2

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

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

42
Brain

Publications for Epileptic Encephalopathy, Infantile or Early Childhood, 2

Articles related to Epileptic Encephalopathy, Infantile or Early Childhood, 2:

# Title Authors Year
1
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. ( 27789573 )
2017
2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. ( 29100083 )
2017
3
A novel variant in GABRB2 associated with intellectual disability and epilepsy. ( 25124326 )
2014

Variations for Epileptic Encephalopathy, Infantile or Early Childhood, 2

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Infantile or Early Childhood, 2:

76
# Symbol AA change Variation ID SNP ID
1 GABRB2 p.Thr287Pro VAR_080716

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

6 (show all 14)
# 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.578G> A (p.Arg193His) single nucleotide variant Uncertain significance rs373324958 GRCh37 Chromosome 5, 160763740: 160763740
4 GABRB2 NM_021911.2(GABRB2): c.578G> A (p.Arg193His) single nucleotide variant Uncertain significance rs373324958 GRCh38 Chromosome 5, 161336733: 161336733
5 GABRB2 NM_021911.2(GABRB2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic/Likely pathogenic rs1085307993 GRCh37 Chromosome 5, 160758063: 160758063
6 GABRB2 NM_021911.2(GABRB2): c.904G> A (p.Val302Met) single nucleotide variant Pathogenic/Likely pathogenic rs1085307993 GRCh38 Chromosome 5, 161331056: 161331056
7 GABRB2 NM_021911.2(GABRB2): c.859A> C (p.Thr287Pro) single nucleotide variant Pathogenic rs1554093894 GRCh37 Chromosome 5, 160758108: 160758108
8 GABRB2 NM_021911.2(GABRB2): c.859A> C (p.Thr287Pro) single nucleotide variant Pathogenic rs1554093894 GRCh38 Chromosome 5, 161331101: 161331101
9 GABRB2 NM_021911.2(GABRB2): c.908A> G (p.Lys303Arg) single nucleotide variant Pathogenic rs1554093885 GRCh37 Chromosome 5, 160758059: 160758059
10 GABRB2 NM_021911.2(GABRB2): c.908A> G (p.Lys303Arg) single nucleotide variant Pathogenic rs1554093885 GRCh38 Chromosome 5, 161331052: 161331052
11 GABRB2 NM_021911.2(GABRB2): c.730T> C (p.Tyr244His) single nucleotide variant Pathogenic rs1554094149 GRCh37 Chromosome 5, 160761861: 160761861
12 GABRB2 NM_021911.2(GABRB2): c.730T> C (p.Tyr244His) single nucleotide variant Pathogenic rs1554094149 GRCh38 Chromosome 5, 161334854: 161334854
13 GABRB2 NM_021911.2(GABRB2): c.830T> C (p.Leu277Ser) single nucleotide variant Pathogenic rs1554094145 GRCh37 Chromosome 5, 160761761: 160761761
14 GABRB2 NM_021911.2(GABRB2): c.830T> C (p.Leu277Ser) single nucleotide variant Pathogenic rs1554094145 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....