EIEE76
MCID: EPL241
MIFTS: 30

Epileptic Encephalopathy, Early Infantile, 76 (EIEE76)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological 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 56 73 29 6
Eiee76 56 73
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination; Decam 56
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination 56
Decam 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early death (in some patients)
onset of seizures in first days, weeks, or months of life


HPO:

31
epileptic encephalopathy, early infantile, 76:
Inheritance autosomal recessive inheritance
Clinical modifier death in childhood


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 76

OMIM : 56 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 eiee76, 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 eye, and related phenotypes are intellectual disability and microcephaly

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 76: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE76 is an autosomal recessive form that may result in death in childhood.

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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

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

(show all 15)
# 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 middle east respiratory syndrome 10.1
11 dementia 10.1
12 vaccinia 10.1
13 skin carcinoma 10.1
14 plasmacytoma 10.1
15 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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 76:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 microcephaly 31 very rare (1%) HP:0000252
3 feeding difficulties in infancy 31 very rare (1%) HP:0008872
4 absent speech 31 very rare (1%) HP:0001344
5 cerebellar atrophy 31 very rare (1%) HP:0001272
6 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
7 cerebral atrophy 31 very rare (1%) HP:0002059
8 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
9 inability to walk 31 very rare (1%) HP:0002540
10 multifocal epileptiform discharges 31 very rare (1%) HP:0010841
11 delayed cns myelination 31 very rare (1%) HP:0002188
12 periventricular white matter hyperdensities 31 very rare (1%) HP:0030891
13 seizure 31 very rare (1%) HP:0001250
14 severe global developmental delay 31 HP:0011344
15 lower limb spasticity 31 HP:0002061
16 upper limb spasticity 31 HP:0006986

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Neurologic Central Nervous System:
spastic tetraplegia
dystonia
cerebral atrophy
epileptic encephalopathy
hypomyelination
more
Head And Neck Eyes:
poor eye contact
cortical visual impairment (in some patients)

Abdomen Gastrointestinal:
poor feeding
tube feeding

Head And Neck Face:
dysmorphic facial features (in some patients)

Growth Other:
failure to thrive
poor overall growth

Skeletal Spine:
kyphoscoliosis

Muscle Soft Tissue:
muscle atrophy
axial hypotonia

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM:

618468

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

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 76:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 76 29

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 76

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

40
Brain, Eye

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. 56 6
31031012 2019
2
Autozygome and high throughput confirmation of disease genes candidacy. 6 56
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. 56 6
30656450 2019
4
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 6 56
26539891 2015
5
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 56 61
31134736 2019
6
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
7
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 76

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

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTL6B NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter)SNV Pathogenic 635099 rs1562848142 7:100244392-100244392 7:100646769-100646769
2 ACTL6B NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?)deletion Pathogenic/Likely pathogenic 635102 rs998928845 7:100240871-100240871 7:100643248-100643248
3 ACTL6B NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)SNV Likely pathogenic 635100 rs1562848425 7:100244847-100244847 7:100647224-100647224
4 ACTL6B NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)SNV Likely pathogenic 635101 rs955171017 7:100244242-100244242 7:100646619-100646619
5 ACTL6B NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)SNV Likely pathogenic 692141 7:100244678-100244678 7:100647055-100647055
6 ACTL6B NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)SNV Likely pathogenic 692142 7:100245086-100245086 7:100647463-100647463
7 ACTL6B NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)SNV Likely pathogenic 692138 7:100246358-100246358 7:100648735-100648735
8 ACTL6B NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)SNV Likely pathogenic 635104 rs1562848568 7:100245102-100245102 7:100647479-100647479
9 ACTL6B NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)SNV Likely pathogenic 635105 rs1562848909 7:100246231-100246231 7:100648608-100648608
10 ACTL6B NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)SNV Likely pathogenic 692137 7:100252722-100252722 7:100655099-100655099
11 ACTL6B NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)SNV Likely pathogenic 828105 7:100244200-100244200 7:100646577-100646577
12 ACTL6B NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)SNV Likely pathogenic 402140 rs1060499738 7:100244637-100244637 7:100647014-100647014
13 ACTL6B NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)SNV Uncertain significance 692140 7:100240875-100240875 7:100643252-100643252
14 ACTL6B NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)SNV Uncertain significance 692139 7:100247739-100247739 7:100650116-100650116
15 ACTL6B NM_016188.5(ACTL6B):c.435_437CTT[2] (p.Phe147del)short repeat Uncertain significance 635103 rs772520618 7:100247685-100247687 7:100650062-100650064

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 76:

73
# Symbol AA change Variation ID SNP ID
1 ACTL6B p.Leu206Pro VAR_082128
2 ACTL6B p.Gly349Ser VAR_082135 rs955171017

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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