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DEE32
MCID: DVL058
MIFTS: 25
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Developmental and Epileptic Encephalopathy 32 (DEE32)
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 32:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation normal development before onset of seizures seizures may remit later in childhood HPO:31
developmental and epileptic encephalopathy 32:
Inheritance autosomal dominant 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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OMIM® :
57
Developmental and epileptic encephalopathy-32 (DEE32) is a neurologic disorder characterized by the onset of various seizure types, including febrile and myoclonic seizures, between about 5 and 17 months of age after normal early development. Thereafter, patients manifest global developmental delay or developmental regression with impaired intellectual development and poor or absent speech. Some may be able to attend special schools. Other features include ataxia with difficulty walking, deficient fine motor skills, tremor, and dysarthria. The seizures are initially refractory in some cases, but may remit later during childhood; however, neurologic deficits persist (summary by Syrbe et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616366) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 32, is also known as epileptic encephalopathy, early infantile, 32. An important gene associated with Developmental and Epileptic Encephalopathy 32 is KCNA2 (Potassium Voltage-Gated Channel Subfamily A Member 2). Related phenotypes are intellectual disability and ataxia Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has material basis in heterozygous mutation in the KCNA2 gene on chromosome 1p13. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 32: 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. |
Human phenotypes related to Developmental and Epileptic Encephalopathy 32:31 (show all 7)
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Articles related to Developmental and Epileptic Encephalopathy 32:
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Genes related to Developmental and Epileptic Encephalopathy 32 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 32:6 (show top 50) (show all 88)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 32:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 32.
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