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DEE34
MCID: DVL061
MIFTS: 34
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Developmental and Epileptic Encephalopathy 34 (DEE34)
Categories:
Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 34:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
two unrelated families have been reported (last curated november 2015) seizures are refractory onset in first weeks or months of life HPO:31
developmental and epileptic encephalopathy 34:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Cancer diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Respiratory diseases Mental diseases |
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UniProtKB/Swiss-Prot :
73
Epileptic encephalopathy, early infantile, 34: 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. EIEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally.
MalaCards based summary : Developmental and Epileptic Encephalopathy 34, also known as early infantile epileptic encephalopathy 34, is related to slc12a5-related epilepsy of infancy with migrating focal seizures and hypothalamic hamartomas. An important gene associated with Developmental and Epileptic Encephalopathy 34 is SLC12A5 (Solute Carrier Family 12 Member 5). Related phenotypes are intellectual disability and abnormal pyramidal sign Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has material basis in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. OMIM® : 57 Developmental and epileptic encephalopathy-34 (DEE34) is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in the first year of life after normal early development. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015). For a discussion of genetic heterogeneity of DEE, see 308350. (616645) (Updated 05-Mar-2021) |
Human phenotypes related to Developmental and Epileptic Encephalopathy 34:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616645 (Updated 05-Mar-2021) |
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Articles related to Developmental and Epileptic Encephalopathy 34:
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Genes related to Developmental and Epileptic Encephalopathy 34 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 34:6 (show top 50) (show all 200)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 34:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 34.
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Cellular components related to Developmental and Epileptic Encephalopathy 34 according to GeneCards Suite gene sharing:
Biological processes related to Developmental and Epileptic Encephalopathy 34 according to GeneCards Suite gene sharing:
Molecular functions related to Developmental and Epileptic Encephalopathy 34 according to GeneCards Suite gene sharing:
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