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DEE7
MCID: DVL038
MIFTS: 46
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Developmental and Epileptic Encephalopathy 7 (DEE7)
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 7:
Characteristics:Orphanet epidemiological data:58
kcnq2-related epileptic encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation (in most patients) onset in early infancy, often in the neonatal period multiple seizures daily at onset seizures are refractory to treatment seizure frequency decreases during early childhood most patients become seizure-free by age 3 or 4 years variable intrafamilial severity HPO:31
developmental and epileptic encephalopathy 7:
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
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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OMIM® :
57
Developmental and epileptic encephalopathy-7 (DEE7) is a neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. Affected individuals have resultant delayed neurologic development and persistent neurologic abnormalities. EEG initially shows a burst suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, which may later evolve to multifocal epileptiform activity. Brain imaging in some patients shows lesions in the basal ganglia. Seizures usually remit by age 3 or 4 years, with improvement of EEG abnormalities and possibly brain imaging abnormalities, but the severe neurologic deficits persist (summary by Borgatti et al., 2004 and Weckhuysen et al., 2012). (613720) (Updated 05-Mar-2021)
MalaCards based summary : Developmental and Epileptic Encephalopathy 7, also known as early infantile epileptic encephalopathy 7, is related to kcnq2-related disorders and early infantile epileptic encephalopathy, and has symptoms including tonic seizures An important gene associated with Developmental and Epileptic Encephalopathy 7 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include globus pallidus and thalamus, and related phenotypes are intellectual disability and epileptic encephalopathy Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has material basis in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 7: An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. |
Human phenotypes related to Developmental and Epileptic Encephalopathy 7:58 31 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:613720 (Updated 05-Mar-2021)UMLS symptoms related to Developmental and Epileptic Encephalopathy 7:tonic seizures |
Interventional clinical trials:
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MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 7:40
Globus Pallidus,
Thalamus
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Articles related to Developmental and Epileptic Encephalopathy 7:
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Genes related to Developmental and Epileptic Encephalopathy 7 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 7:6 (show top 50) (show all 147)
UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 7:73 (show all 15)
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Search
GEO
for disease gene expression data for Developmental and Epileptic Encephalopathy 7.
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Pathways related to Developmental and Epileptic Encephalopathy 7 according to GeneCards Suite gene sharing:
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Cellular components related to Developmental and Epileptic Encephalopathy 7 according to GeneCards Suite gene sharing:
Biological processes related to Developmental and Epileptic Encephalopathy 7 according to GeneCards Suite gene sharing:
Molecular functions related to Developmental and Epileptic Encephalopathy 7 according to GeneCards Suite gene sharing:
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