IECEE1
MCID: EPL212
MIFTS: 21

Epileptic Encephalopathy, Infantile or Early Childhood, 1 (IECEE1)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epileptic Encephalopathy, Infantile or Early Childhood, 1

MalaCards integrated aliases for Epileptic Encephalopathy, Infantile or Early Childhood, 1:

Name: Epileptic Encephalopathy, Infantile or Early Childhood, 1 57 75 29 6
Iecee1 57 75
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset of developmental delay in infancy
onset of seizures between first weeks and first years of life


Classifications:



Summaries for Epileptic Encephalopathy, Infantile or Early Childhood, 1

OMIM : 57 IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). (617711)

MalaCards based summary : Epileptic Encephalopathy, Infantile or Early Childhood, 1, also known as iecee1, is related to epileptic encephalopathy, infantile or early childhood, 2 and epileptic encephalopathy, infantile or early childhood, 3. An important gene associated with Epileptic Encephalopathy, Infantile or Early Childhood, 1 is PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha). Affiliated tissues include brain, and related phenotypes are hypertelorism and intellectual disability

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, infantile or early childhood, 1: 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. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life.

Related Diseases for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Diseases in the Epileptic Encephalopathy, Childhood-Onset family:

Epileptic Encephalopathy, Infantile or Early Childhood, 1 Epileptic Encephalopathy, Infantile or Early Childhood, 2
Epileptic Encephalopathy, Infantile or Early Childhood, 3

Diseases related to Epileptic Encephalopathy, Infantile or Early Childhood, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, infantile or early childhood, 2 11.1
2 epileptic encephalopathy, infantile or early childhood, 3 11.1

Symptoms & Phenotypes for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
cortical visual impairment (in some patients)

Skeletal Feet:
talipes

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral abnormalities

Neurologic Central Nervous System:
developmental regression
cerebral atrophy
unsteady gait
hypsarrhythmia
epileptic encephalopathy
more
Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding


Clinical features from OMIM:

617711

Human phenotypes related to Epileptic Encephalopathy, Infantile or Early Childhood, 1:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 spasticity 32 very rare (1%) HP:0001257
5 developmental regression 32 HP:0002376
6 global developmental delay 32 HP:0001263
7 absent speech 32 HP:0001344
8 cerebral atrophy 32 HP:0002059
9 unsteady gait 32 HP:0002317
10 hypsarrhythmia 32 HP:0002521
11 epileptic encephalopathy 32 HP:0200134
12 delayed myelination 32 HP:0012448
13 multifocal epileptiform discharges 32 HP:0010841
14 cerebral visual impairment 32 very rare (1%) HP:0100704

Drugs & Therapeutics for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Genetic Tests for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Genetic tests related to Epileptic Encephalopathy, Infantile or Early Childhood, 1:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Infantile or Early Childhood, 1 29 PPP3CA

Anatomical Context for Epileptic Encephalopathy, Infantile or Early Childhood, 1

MalaCards organs/tissues related to Epileptic Encephalopathy, Infantile or Early Childhood, 1:

41
Brain

Publications for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Variations for Epileptic Encephalopathy, Infantile or Early Childhood, 1

ClinVar genetic disease variations for Epileptic Encephalopathy, Infantile or Early Childhood, 1:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP3CA NM_000944.4(PPP3CA): c.1333C> T (p.Gln445Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 101953430: 101953430
2 PPP3CA NM_000944.4(PPP3CA): c.1333C> T (p.Gln445Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 101032273: 101032273
3 PPP3CA NM_000944.4(PPP3CA): c.275A> G (p.His92Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 101109063: 101109063
4 PPP3CA NM_000944.4(PPP3CA): c.275A> G (p.His92Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 102030220: 102030220
5 PPP3CA NM_000944.4(PPP3CA): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 101032267: 101032267
6 PPP3CA NM_000944.4(PPP3CA): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 101953424: 101953424
7 PPP3CA NM_000944.4(PPP3CA): c.843C> G (p.His281Gln) single nucleotide variant Pathogenic rs199706529 GRCh37 Chromosome 4, 102004360: 102004360
8 PPP3CA NM_000944.4(PPP3CA): c.843C> G (p.His281Gln) single nucleotide variant Pathogenic rs199706529 GRCh38 Chromosome 4, 101083203: 101083203
9 PPP3CA NM_000944.4(PPP3CA): c.844G> A (p.Glu282Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 101083202: 101083202
10 PPP3CA NM_000944.4(PPP3CA): c.844G> A (p.Glu282Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 102004359: 102004359
11 PPP3CA NM_000944.4(PPP3CA): c.1255_1256delAG (p.Ser419Cysfs) deletion Likely pathogenic GRCh37 Chromosome 4, 101953507: 101953508
12 PPP3CA NM_000944.4(PPP3CA): c.1255_1256delAG (p.Ser419Cysfs) deletion Likely pathogenic GRCh38 Chromosome 4, 101032350: 101032351
13 PPP3CA NM_001130692.1(PPP3CA): c.1182_1185dup (p.Ser396Thrfs) duplication Pathogenic GRCh38 Chromosome 4, 101032295: 101032298
14 PPP3CA NM_001130692.1(PPP3CA): c.1182_1185dup (p.Ser396Thrfs) duplication Pathogenic GRCh37 Chromosome 4, 101953452: 101953455

Expression for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Search GEO for disease gene expression data for Epileptic Encephalopathy, Infantile or Early Childhood, 1.

Pathways for Epileptic Encephalopathy, Infantile or Early Childhood, 1

GO Terms for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Sources for Epileptic Encephalopathy, Infantile or Early Childhood, 1

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74 UMLS via Orphanet
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