EIEE13
MCID: EPL082
MIFTS: 44
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Epileptic Encephalopathy, Early Infantile, 13 (EIEE13)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 13:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Bone diseases Nephrological diseases Mental diseases |
NIH Rare Diseases :
52
SCN8A encephalopathy is a very rare form of early-onset epilepsy that causes multiple types of seizures and developmental delay or regression (loss of skills). Seizures begin during the first 18 months of life, at an average age of 4 months. Types of seizures may include generalized tonic-clonic seizures , infantile spasms , absence seizures , and focal seizures . Other signs and symptoms of SCN8A encephalopathy may include low muscle tone (hypotonia ), a high pain tolerance, movement disorders (such as dystonia and ataxia ), mild to severe intellectual disability , sleep problems, and autistic-like features . In some people with SCN8A encephalopathy, various other medical problems have been reported including hearing or vision problems, scoliosis , and difficulty regulating body temperature. About 10% of people with SCN8A encephalopathy reported in the literature have died from sudden unexpected death in epilepsy (SUDEP). SCN8A encephalopathy is caused by mutations in the SCN8A gene . Inheritance is autosomal dominant , but most people with SCN8A encephalopathy have a new mutation in the gene that was not inherited from a parent. Treatment aims to control seizures with medications, which is extremely challenging. Seizure control should be managed by a pediatric neurologist with expertise in epilepsy who is familiar with SCN8A encephalopathy.
MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 13, also known as early infantile epileptic encephalopathy 13, is related to seizure disorder and visual epilepsy. An important gene associated with Epileptic Encephalopathy, Early Infantile, 13 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Affiliated tissues include cortex, and related phenotypes are cerebral atrophy and intellectual disability Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN8A gene on chromosome 12q13. UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 13: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. |
Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 13:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614558 |
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MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 13:40
Cortex
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Articles related to Epileptic Encephalopathy, Early Infantile, 13:(show all 17)
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ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:6 (show top 50) (show all 79)
UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:73 (show all 25)
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GEO
for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 13.
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Pathways related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:
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Cellular components related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:
Biological processes related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:
Molecular functions related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:
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