IECEE3
MCID: EPL225
MIFTS: 20

Epileptic Encephalopathy, Infantile or Early Childhood, 3 (IECEE3)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epileptic Encephalopathy, Infantile or Early Childhood, 3

MalaCards integrated aliases for Epileptic Encephalopathy, Infantile or Early Childhood, 3:

Name: Epileptic Encephalopathy, Infantile or Early Childhood, 3 57 75 29 6
Iecee3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
four unrelated patients have been reported (last curated june 2018)
onset of seizures in the first years of life


HPO:

32
epileptic encephalopathy, infantile or early childhood, 3:
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Infantile or Early Childhood, 3

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, infantile or early childhood, 3: 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. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non- ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability.

MalaCards based summary : Epileptic Encephalopathy, Infantile or Early Childhood, 3, is also known as iecee3. An important gene associated with Epileptic Encephalopathy, Infantile or Early Childhood, 3 is ATP6V1A (ATPase H+ Transporting V1 Subunit A). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and seizures

OMIM : 57 IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018). For a discussion of genetic heterogeneity of IECEE, see IECEE1 (617711). (618012)

Related Diseases for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Symptoms & Phenotypes for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
inability to walk
cerebellar atrophy
cerebral atrophy
hypsarrhythmia
more
Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth (in some patients)

Head And Neck Eyes:
optic atrophy
iris coloboma
hypermetropia
poor or absent visual fixation

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Face:
dysmorphic features, mild, nonspecific (in some patients)


Clinical features from OMIM:

618012

Human phenotypes related to Epileptic Encephalopathy, Infantile or Early Childhood, 3:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 hyperreflexia 32 HP:0001347
4 global developmental delay 32 HP:0001263
5 optic atrophy 32 HP:0000648
6 absent speech 32 HP:0001344
7 inability to walk 32 HP:0002540
8 iris coloboma 32 HP:0000612
9 cerebellar atrophy 32 HP:0001272
10 spastic tetraparesis 32 HP:0001285
11 hypoplasia of the corpus callosum 32 HP:0002079
12 cerebral atrophy 32 HP:0002059
13 hypsarrhythmia 32 HP:0002521
14 epileptic encephalopathy 32 HP:0200134
15 cns hypomyelination 32 HP:0003429
16 hypermetropia 32 HP:0000540
17 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Genetic Tests for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Genetic tests related to Epileptic Encephalopathy, Infantile or Early Childhood, 3:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Infantile or Early Childhood, 3 29 ATP6V1A

Anatomical Context for Epileptic Encephalopathy, Infantile or Early Childhood, 3

MalaCards organs/tissues related to Epileptic Encephalopathy, Infantile or Early Childhood, 3:

41
Eye, Brain

Publications for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Variations for Epileptic Encephalopathy, Infantile or Early Childhood, 3

ClinVar genetic disease variations for Epileptic Encephalopathy, Infantile or Early Childhood, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V1A NM_001690.3(ATP6V1A): c.298G> T (p.Asp100Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 113784310: 113784310
2 ATP6V1A NM_001690.3(ATP6V1A): c.298G> T (p.Asp100Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 113503157: 113503157
3 ATP6V1A NM_001690.3(ATP6V1A): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 113794928: 113794928
4 ATP6V1A NM_001690.3(ATP6V1A): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 113513775: 113513775
5 ATP6V1A NM_001690.3(ATP6V1A): c.80C> G (p.Pro27Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 113778833: 113778833
6 ATP6V1A NM_001690.3(ATP6V1A): c.80C> G (p.Pro27Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 113497680: 113497680
7 ATP6V1A NM_001690.3(ATP6V1A): c.1112A> G (p.Asp371Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 113795090: 113795090
8 ATP6V1A NM_001690.3(ATP6V1A): c.1112A> G (p.Asp371Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 113513937: 113513937
9 ATP6V1A NM_001690.3(ATP6V1A): c.1123C> A (p.Pro375Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 113795101: 113795101
10 ATP6V1A NM_001690.3(ATP6V1A): c.1123C> A (p.Pro375Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 113513948: 113513948

Expression for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Search GEO for disease gene expression data for Epileptic Encephalopathy, Infantile or Early Childhood, 3.

Pathways for Epileptic Encephalopathy, Infantile or Early Childhood, 3

GO Terms for Epileptic Encephalopathy, Infantile or Early Childhood, 3

Sources for Epileptic Encephalopathy, Infantile or Early Childhood, 3

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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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