IECEE1
MCID: EPL212
MIFTS: 23

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 58 76 30 6
Iecee1 58 76
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 1 41
Infantile or Early Childhood Epileptic Encephalopathy 1 12

Characteristics:

OMIM:

58
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 : 58 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 spasticity and cerebral visual impairment

Disease Ontology : 12 An electroclinical syndrome characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has material basis in heterozygous mutation in the PPP3CA gene on chromosome 4q24.

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 very rare (1%) HP:0001257
2 cerebral visual impairment 33 very rare (1%) HP:0100704
3 hypertelorism 33 HP:0000316
4 intellectual disability 33 HP:0001249
5 seizures 33 HP:0001250
6 developmental regression 33 HP:0002376
7 global developmental delay 33 HP:0001263
8 absent speech 33 HP:0001344
9 epileptic encephalopathy 33 HP:0200134
10 hypsarrhythmia 33 HP:0002521
11 cerebral atrophy 33 HP:0002059
12 unsteady gait 33 HP:0002317
13 delayed myelination 33 HP:0012448
14 multifocal epileptiform discharges 33 HP:0010841

Symptoms via clinical synopsis from OMIM:

58
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
epileptic encephalopathy
hypsarrhythmia
cerebral atrophy
unsteady gait
more
Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM:

617711

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 30 PPP3CA

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

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

42
Brain

Publications for Epileptic Encephalopathy, Infantile or Early Childhood, 1

Articles related to Epileptic Encephalopathy, Infantile or Early Childhood, 1:

# Title Authors Year
1
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. ( 29432562 )
2018
2
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. ( 28942967 )
2017

Variations for Epileptic Encephalopathy, Infantile or Early Childhood, 1

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP3CA NM_000944.4(PPP3CA): c.1333C> T (p.Gln445Ter) single nucleotide variant Pathogenic rs1553920376 GRCh37 Chromosome 4, 101953430: 101953430
2 PPP3CA NM_000944.4(PPP3CA): c.1333C> T (p.Gln445Ter) single nucleotide variant Pathogenic rs1553920376 GRCh38 Chromosome 4, 101032273: 101032273
3 PPP3CA NM_000944.4(PPP3CA): c.275A> G (p.His92Arg) single nucleotide variant Pathogenic rs1553925558 GRCh38 Chromosome 4, 101109063: 101109063
4 PPP3CA NM_000944.4(PPP3CA): c.275A> G (p.His92Arg) single nucleotide variant Pathogenic rs1553925558 GRCh37 Chromosome 4, 102030220: 102030220
5 PPP3CA NM_000944.4(PPP3CA): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic rs1553920374 GRCh38 Chromosome 4, 101032267: 101032267
6 PPP3CA NM_000944.4(PPP3CA): c.1339G> A (p.Ala447Thr) single nucleotide variant Pathogenic rs1553920374 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 rs1553923787 GRCh38 Chromosome 4, 101083202: 101083202
10 PPP3CA NM_000944.4(PPP3CA): c.844G> A (p.Glu282Lys) single nucleotide variant Likely pathogenic rs1553923787 GRCh37 Chromosome 4, 102004359: 102004359
11 PPP3CA NM_000944.4(PPP3CA): c.1255_1256delAG (p.Ser419Cysfs) deletion Likely pathogenic rs1553920383 GRCh37 Chromosome 4, 101953507: 101953508
12 PPP3CA NM_000944.4(PPP3CA): c.1255_1256delAG (p.Ser419Cysfs) deletion Likely pathogenic rs1553920383 GRCh38 Chromosome 4, 101032350: 101032351
13 PPP3CA NM_001130692.1(PPP3CA): c.1182_1185dup (p.Ser396Thrfs) duplication Pathogenic rs1553920379 GRCh38 Chromosome 4, 101032295: 101032298
14 PPP3CA NM_001130692.1(PPP3CA): c.1182_1185dup (p.Ser396Thrfs) duplication Pathogenic rs1553920379 GRCh37 Chromosome 4, 101953452: 101953455
15 PPP3CA NM_001130691.1(PPP3CA): c.1290dup (p.Met431Hisfs) duplication Pathogenic GRCh38 Chromosome 4, 101032316: 101032316
16 PPP3CA NM_001130691.1(PPP3CA): c.1290dup (p.Met431Hisfs) duplication Pathogenic GRCh37 Chromosome 4, 101953473: 101953473

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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