IECEE2
MCID: EPL214
MIFTS: 19

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 57 75 29 6
Iecee2 57 75
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 2 40

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, infantile or early childhood, 2:
Onset and clinical course variable expressivity


Classifications:



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, and related phenotypes are intellectual disability and seizures

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
Neurologic Central Nervous System:
ataxia
spasticity
dyskinesia
myoclonus
dystonia
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Eyes:
cortical visual impairment

Head And Neck Head:
microcephaly (in some patients)


Clinical features from OMIM:

617829

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 spasticity 32 HP:0001257
5 eeg abnormality 32 HP:0002353
6 global developmental delay 32 HP:0001263
7 dyskinesia 32 HP:0100660
8 myoclonus 32 HP:0001336
9 absent speech 32 HP:0001344
10 dystonia 32 HP:0001332
11 inability to walk 32 very rare (1%) HP:0002540
12 difficulty walking 32 HP:0002355
13 lethargy 32 HP:0001254
14 epileptic encephalopathy 32 HP:0200134

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 29 GABRB2

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

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

75
# 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 12)
# 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.904G> A (p.Val302Met) single nucleotide variant Likely pathogenic rs1085307993 GRCh37 Chromosome 5, 160758063: 160758063
4 GABRB2 NM_021911.2(GABRB2): c.904G> A (p.Val302Met) single nucleotide variant Likely pathogenic rs1085307993 GRCh38 Chromosome 5, 161331056: 161331056
5 GABRB2 NM_021911.2(GABRB2): c.859A> C (p.Thr287Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160758108: 160758108
6 GABRB2 NM_021911.2(GABRB2): c.859A> C (p.Thr287Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161331101: 161331101
7 GABRB2 NM_021911.2(GABRB2): c.908A> G (p.Lys303Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160758059: 160758059
8 GABRB2 NM_021911.2(GABRB2): c.908A> G (p.Lys303Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161331052: 161331052
9 GABRB2 NM_021911.2(GABRB2): c.730T> C (p.Tyr244His) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160761861: 160761861
10 GABRB2 NM_021911.2(GABRB2): c.730T> C (p.Tyr244His) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 161334854: 161334854
11 GABRB2 NM_021911.2(GABRB2): c.830T> C (p.Leu277Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 160761761: 160761761
12 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

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