title: An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.
abstract: Severe myoclonic epilepsy of infancy (SMEI) is a well-known catastrophic epileptic syndrome. Several mutations of the sodium channel alpha 1 subunit (SCN1A ) gene were reported in patients with SMEI. Most of the mutations were DE NOVO. Inherited truncating mutations are very rare. Here a patient with a new nonsense mutation (c.4933 C>T; p.R1645X) of the gene is described. This mutation was inherited from the father who had only febrile seizures during childhood.
authors.affiliation: Division of Child Neurology, Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey. sarenur.gokben@ege.edu.tr
authors.forename: S
authors.initials: S
authors.lastname: Gökben
authors.forename: A
authors.initials: A
authors.lastname: Berdeli
authors.forename: G
authors.initials: G
authors.lastname: Serdaroğlu
mesh_terms: D001120:Arginine / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D000072260:RNA Splicing Factors; D014421:Turkey
chemical_list: D002352:Carrier Proteins; D018389:Codon, Nonsense; D000072260:RNA Splicing Factors; C486783:SCNM1 protein, human; D001120:Arginine