Epileptic Encephalopathy, Early Infantile, 13 (EIEE13)

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Disease Ontology 12 DOID:0080445 OMIM 56 614558 OMIM Phenotypic Series 56 PS308350 MeSH 43 D013036

MedGen 41 C3281191 SNOMED-CT via HPO 68 224958001 228156007 247578003 263681008 278849000 28055006 408856003 408857007 418143002 43614003 52522001 609225004 91138005 more UMLS 71 C3281191

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 encephalopathy and epileptic encephalopathy, early infantile, 6. 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, eye and bone, 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.

More information from OMIM: 614558 PS308350

Clinical features from OMIM:

614558

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 13

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 13.