DEE76
MCID: DVL100
MIFTS: 33

Developmental and Epileptic Encephalopathy 76 (DEE76)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 76

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 76:

Name: Developmental and Epileptic Encephalopathy 76 57 12
Developmental and Epileptic Encephalopathy, 76 29 6
Epileptic Encephalopathy, Early Infantile, 76 57 72
Eiee76 57 72
Dee76 57 12
Decam 57 12
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination; Decam 57
Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination 57
Developmental Delay, Epileptic Endephalopathy, Cerebral Atrophy, and Abnormal Myelination 12
Epileptic Encephalopathy, Early Infantile, 76; Eiee76 57
Early Infantile Epileptic Encephalopathy 76 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
developmental and epileptic encephalopathy 76:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 76

OMIM® : 57 Developmental and epileptic encephalopathy-76 (DEE76) 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 DEE, see 308350. (618468) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 76, also known as developmental and epileptic encephalopathy, 76, is related to agenesis of corpus callosum, cardiac, ocular, and genital syndrome and cerebral atrophy. An important gene associated with Developmental and Epileptic Encephalopathy 76 is ACTL6B (Actin Like 6B). The drugs Antioxidants and Procyanidin have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, and related phenotypes are intellectual disability and microcephaly

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has material basis in homozygous or compound heterozygous mutation in ACTL6B on chromosome 7q22.1.

UniProtKB/Swiss-Prot : 72 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 Developmental and Epileptic Encephalopathy 76

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 76 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.4
2 cerebral atrophy 10.4
3 encephalopathy 10.4

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 76

Human phenotypes related to Developmental and Epileptic Encephalopathy 76:

31 (showing 16, show less)
# 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 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
6 cerebellar atrophy 31 very rare (1%) HP:0001272
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®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor overall growth

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 Height:
short stature

Skeletal Spine:
kyphoscoliosis

Muscle Soft Tissue:
muscle atrophy
axial hypotonia

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

618468 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 76

Drugs for Developmental and Epileptic Encephalopathy 76 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 10, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants
2
Procyanidin 4852-22-6 147299
3 Protective Agents
4 Anti-Infective Agents
5 Proanthocyanidin
6 Antiparasitic Agents
7 Antiprotozoal Agents
8 Anthocyanidin
9 Trace Elements
10 Micronutrients

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Contribution of Dietary Cocoa Procyanidins to the Systemic Presence of Flavanols Metabolites in Humans Completed NCT01483508
2 Investigation on the Effects of Cocoa Procyanidins on Vascular Function in Healthy Individuals Completed NCT02728466

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 76

Genetic Tests for Developmental and Epileptic Encephalopathy 76

Genetic tests related to Developmental and Epileptic Encephalopathy 76:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 76 29 ACTL6B

Anatomical Context for Developmental and Epileptic Encephalopathy 76

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 76:

40
Eye, Brain, Cortex

Publications for Developmental and Epileptic Encephalopathy 76

Articles related to Developmental and Epileptic Encephalopathy 76:

(showing 8, show less)
# Title Authors PMID Year
1
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. 57 6
31031012 2019
2
Autozygome and high throughput confirmation of disease genes candidacy. 6 57
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. 57 6
30656450 2019
4
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 6 57
26539891 2015
5
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 57 61
31134736 2019
6
Design For The First Narrowband Filter For The Dark Energy Camera: Optimizing The LAGER Survey For Z ~ 7 Galaxies. 61
33505044 2019
7
The rotation of low mass stars at 30 Myr in the cluster NGC 3766. 61
33014118 2019
8
The Neural Mechanism Exploration of Adaptive Motor Control: Dynamical Economic Cell Allocation in the Primary Motor Cortex. 61
27323368 2017

Variations for Developmental and Epileptic Encephalopathy 76

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 76:

6 (showing 16, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTL6B NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) SNV Pathogenic 402140 rs1060499738 GRCh37: 7:100244637-100244637
GRCh38: 7:100647014-100647014
2 ACTL6B NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) SNV Pathogenic 635099 rs1562848142 GRCh37: 7:100244392-100244392
GRCh38: 7:100646769-100646769
3 ACTL6B NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?) Deletion Pathogenic 635102 rs998928845 GRCh37: 7:100240871-100240871
GRCh38: 7:100643248-100643248
4 ACTL6B NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) SNV Likely pathogenic 692137 rs929755522 GRCh37: 7:100252722-100252722
GRCh38: 7:100655099-100655099
5 ACTL6B NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter) SNV Likely pathogenic 692138 rs1584468891 GRCh37: 7:100246358-100246358
GRCh38: 7:100648735-100648735
6 ACTL6B NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) SNV Likely pathogenic 692141 rs141640000 GRCh37: 7:100244678-100244678
GRCh38: 7:100647055-100647055
7 ACTL6B NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) SNV Likely pathogenic 692142 rs1562848556 GRCh37: 7:100245086-100245086
GRCh38: 7:100647463-100647463
8 ACTL6B NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) SNV Likely pathogenic 828105 rs755138493 GRCh37: 7:100244200-100244200
GRCh38: 7:100646577-100646577
9 ACTL6B NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) SNV Likely pathogenic 635100 rs1562848425 GRCh37: 7:100244847-100244847
GRCh38: 7:100647224-100647224
10 ACTL6B NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) SNV Likely pathogenic 635101 rs955171017 GRCh37: 7:100244242-100244242
GRCh38: 7:100646619-100646619
11 ACTL6B NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) SNV Likely pathogenic 635104 rs1562848568 GRCh37: 7:100245102-100245102
GRCh38: 7:100647479-100647479
12 ACTL6B NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) SNV Likely pathogenic 635105 rs1562848909 GRCh37: 7:100246231-100246231
GRCh38: 7:100648608-100648608
13 ACTL6B NM_016188.5(ACTL6B):c.435_437CTT[2] (p.Phe147del) Microsatellite Uncertain significance 635103 rs772520618 GRCh37: 7:100247685-100247687
GRCh38: 7:100650062-100650064
14 ACTL6B NM_016188.5(ACTL6B):c.1000G>C (p.Asp334His) SNV Uncertain significance 982902 GRCh37: 7:100244391-100244391
GRCh38: 7:100646768-100646768
15 ACTL6B NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln) SNV Uncertain significance 692139 rs757603505 GRCh37: 7:100247739-100247739
GRCh38: 7:100650116-100650116
16 ACTL6B NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter) SNV Uncertain significance 692140 rs1584466132 GRCh37: 7:100240875-100240875
GRCh38: 7:100643252-100643252

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 76:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 ACTL6B p.Leu206Pro VAR_082128 rs156284890
2 ACTL6B p.Gly349Ser VAR_082135 rs955171017

Expression for Developmental and Epileptic Encephalopathy 76

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 76.

Pathways for Developmental and Epileptic Encephalopathy 76

GO Terms for Developmental and Epileptic Encephalopathy 76

Sources for Developmental and Epileptic Encephalopathy 76

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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