DEE14
MCID: DVL042
MIFTS: 50
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Developmental and Epileptic Encephalopathy 14 (DEE14)
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 14:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder de novo mutation seizures are refractory to treatment onset of seizures in first 6 months of life seizures become nearly continuous normal development until onset of seizures variable ictal semiology HPO:31
developmental and epileptic encephalopathy 14:
Inheritance autosomal dominant inheritance Onset and clinical course progressive 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 |
OMIM® :
57
Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (614959) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 14, also known as early infantile epileptic encephalopathy 14, is related to malignant migrating partial seizures of infancy and seizure disorder, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Developmental and Epileptic Encephalopathy 14 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include eye, and related phenotypes are poor eye contact and spasticity Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has material basis in heterozygous mutation in the KCNT1 gene on chromosome 9q34. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 14: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. |
Human phenotypes related to Developmental and Epileptic Encephalopathy 14:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614959 (Updated 05-Mar-2021)UMLS symptoms related to Developmental and Epileptic Encephalopathy 14:clonus, twitching of facial muscles MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 14:46
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 14:40
Eye
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Articles related to Developmental and Epileptic Encephalopathy 14:(show all 19)
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 14:6 (show top 50) (show all 513)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 14:73
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 14.
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Pathways related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:
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Cellular components related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:(show all 34)
Molecular functions related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:(show all 13)
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