EIEE76
MCID: EPL241
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 76 (EIEE76)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 76

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 76:

Name: Epileptic Encephalopathy, Early Infantile, 76 57 6
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination; Decam 57
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination 57
Eiee76 57
Decam 57

Classifications:



External Ids:

Summaries for Epileptic Encephalopathy, Early Infantile, 76

OMIM : 57 Early infantile epileptic encephalopathy-76 (EIEE76) is an autosomal recessive neurodevelopmental disorder characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging, mainly cerebral atrophy and delayed myelination. Some patients may have additional features, such as scoliosis or microcephaly. The disorder may result in death in childhood (summary by Bell et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618468)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 76, also known as developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination; decam, is related to helix syndrome and cerebral atrophy. An important gene associated with Epileptic Encephalopathy, Early Infantile, 76 is ACTL6B (Actin Like 6B). Affiliated tissues include brain, and related phenotype is Negative genetic interaction between PTTG1-/- and PTTG1+/+.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 76

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Diseases related to Epileptic Encephalopathy, Early Infantile, 76 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 helix syndrome 10.6
2 cerebral atrophy 10.3
3 encephalopathy 10.3
4 hand skill, relative 10.2
5 cerebral amyloid angiopathy, cst3-related 10.1
6 cerebral amyloid angiopathy, itm2b-related, 2 10.1
7 cerebral amyloid angiopathy, itm2b-related, 1 10.1
8 ataxia and polyneuropathy, adult-onset 10.1
9 branchiootic syndrome 1 10.1
10 dementia 10.1
11 vaccinia 10.1
12 skin carcinoma 10.1
13 plasmacytoma 10.1
14 cataract 10.1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 76:



Diseases related to Epileptic Encephalopathy, Early Infantile, 76

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 76

Clinical features from OMIM:

618468

GenomeRNAi Phenotypes related to Epileptic Encephalopathy, Early Infantile, 76 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.62 ACTL6B TFR2

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 76

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 76

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 76

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 76

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 76:

41
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 76

Articles related to Epileptic Encephalopathy, Early Infantile, 76:

# Title Authors PMID Year
1
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. 8 71
31031012 2019
2
Autozygome and high throughput confirmation of disease genes candidacy. 8 71
30237576 2019
3
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. 8 71
30656450 2019
4
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 8 71
26539891 2015
5
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
6
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
7
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 38
31134736 2019

Variations for Epileptic Encephalopathy, Early Infantile, 76

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 76:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ACTL6B NM_016188.5(ACTL6B): c.999T> A (p.Cys333Ter) single nucleotide variant Pathogenic 7:100244392-100244392 7:100646769-100646769
2 ACTL6B NM_016188.5(ACTL6B): c.820C> T (p.Gln274Ter) single nucleotide variant Pathogenic 7:100244847-100244847 7:100647224-100647224
3 ACTL6B NM_016188.5(ACTL6B): c.1045G> A (p.Gly349Ser) single nucleotide variant Pathogenic 7:100244242-100244242 7:100646619-100646619
4 ACTL6B NM_016188.5(ACTL6B): c.1279del (p.Ter427AspextTer?) deletion Pathogenic 7:100240871-100240871 7:100643248-100643248
5 ACTL6B NM_016188.5(ACTL6B): c.441_443delCTT short repeat Pathogenic 7:100247685-100247687 7:100650062-100650064
6 ACTL6B NM_016188.5(ACTL6B): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic 7:100245102-100245102 7:100647479-100647479
7 ACTL6B NM_016188.5(ACTL6B): c.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic 7:100246231-100246231 7:100648608-100648608
8 ACTL6B NM_016188.5(ACTL6B): c.893G> A (p.Arg298Gln) single nucleotide variant Likely pathogenic rs1060499738 7:100244637-100244637 7:100647014-100647014

Expression for Epileptic Encephalopathy, Early Infantile, 76

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 76.

Pathways for Epileptic Encephalopathy, Early Infantile, 76

GO Terms for Epileptic Encephalopathy, Early Infantile, 76

Sources for Epileptic Encephalopathy, Early Infantile, 76

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