DEE64
MCID: DVL088
MIFTS: 25
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Developmental and Epileptic Encephalopathy 64 (DEE64)
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 64:
Name: Developmental and Epileptic Encephalopathy 64
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable severity de novo mutation onset in the first year of life seizures tend to respond to medical treatment HPO:31
developmental and epileptic encephalopathy 64:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity 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 |
UniProtKB/Swiss-Prot :
73
Epileptic encephalopathy, early infantile, 64: 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. EIEE64 is an autosomal dominant form characterized by onset of seizures usually in the first year of life. Seizure types are variable and include focal dyscognitive and generalized tonic-clonic seizures, as well as febrile seizures in the mildest affected individuals. Seizures tend to respond to medical treatment.
MalaCards based summary : Developmental and Epileptic Encephalopathy 64, is also known as developmental and epileptic encephalopathy, 64. An important gene associated with Developmental and Epileptic Encephalopathy 64 is RHOBTB2 (Rho Related BTB Domain Containing 2). Affiliated tissues include brain, and related phenotypes are microcephaly and intellectual disability OMIM® : 57 Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618004) (Updated 05-Mar-2021) |
Human phenotypes related to Developmental and Epileptic Encephalopathy 64:31 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618004 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 64:40
Brain
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Articles related to Developmental and Epileptic Encephalopathy 64:
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 64:6
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 64:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 64.
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