GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Early infantile epileptic encephalopathy 4

id1178
nameEarly infantile epileptic encephalopathy 4
descriptionSTXBP1 encephalopathy with epilepsy is characterized by early-onset encephalopathy with epilepsy (i.e., moderate to severe intellectual disability, refractory seizures, and ongoing epileptiform activity). The median age of onset of seizures is six weeks (range 1 day to 13 years). Seizure types can include infantile spasms; generalized tonic-clonic, clonic, or tonic seizures; and myoclonic, focal, atonic, and absence seizures. Epilepsy syndromes can include Ohtahara syndrome, West syndrome, Lennox-Gaustaut syndrome, and Dravet syndrome (not SCN1A-related), classic Rett syndrome (not MECP2-related), and atypical Rett syndrome (not CDKL5-related). The EEG is characterized by focal epileptic activity, burst suppression, hypsarrhythmia, or generalized spike-and-slow waves. Other findings can include abnormal tone, movement disorders (especially ataxia and dystonia), and behavior disorders (including autism spectrum disorder). Feeding difficulties are common.
variant-disease NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) AND Early infantile epileptic encephalopathy 4
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) AND Early infantile epileptic encephalopathy 4
NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) AND Early infantile epileptic encephalopathy 4
NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) AND Early infantile epileptic encephalopathy 4
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) AND Early infantile epileptic encephalopathy 4
... 43 more