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DEE69
MCID: DVL093
MIFTS: 24
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Developmental and Epileptic Encephalopathy 69 (DEE69)
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 69:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation death in childhood (in some patients) variable age at seizure onset most patients have onset of seizures in the first months of life later onset of seizures in the first year of life may also occur topiramate may have a favorable response on seizures HPO:31Classifications:
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, 69: 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. EIEE69 is an autosomal dominant form characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication.
MalaCards based summary : Developmental and Epileptic Encephalopathy 69, is also known as developmental and epileptic encephalopathy, 69. An important gene associated with Developmental and Epileptic Encephalopathy 69 is CACNA1E (Calcium Voltage-Gated Channel Subunit Alpha1 E). Affiliated tissues include eye, and related phenotypes are macrocephaly and hyperreflexia Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has material basis in heterozygous mutation in CACNA1E on chromosome 1q25.3. OMIM® : 57 Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618285) (Updated 05-Mar-2021) |
Human phenotypes related to Developmental and Epileptic Encephalopathy 69:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618285 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 69:40
Eye
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Articles related to Developmental and Epileptic Encephalopathy 69:
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Genes related to Developmental and Epileptic Encephalopathy 69 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 69:6 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 69:73 (show all 14)
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 69.
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