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DEE45
MCID: DVL070
MIFTS: 23
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Developmental and Epileptic Encephalopathy 45 (DEE45)
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 45:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation three unrelated patients have been reported (last curated october 2020) HPO:31
developmental and epileptic encephalopathy 45:
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-45 (DEE45) is a neurologic disorder characterized by global developmental delay apparent in infancy or early childhood and onset of seizures within the first 12 months of life. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurologic deficits (summary by Burgess et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617153) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 45, is also known as epileptic encephalopathy, early infantile, 45. An important gene associated with Developmental and Epileptic Encephalopathy 45 is GABRB1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1). Related phenotypes are ataxia and developmental regression Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has material basis in heterozygous mutation in the GABRB1 gene on chromosome 4p13. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 45: 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 45:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617153 (Updated 05-Mar-2021) |
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Articles related to Developmental and Epileptic Encephalopathy 45:
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Genes related to Developmental and Epileptic Encephalopathy 45 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 45:6
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 45:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 45.
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