title: Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
abstract: Mutations in SCN1A gene have been associated with the spectrum of generalized/genetic epilepsy with febrile seizures plus. Recently, databases reporting SCN1A mutations and clinical details of patients have been created to facilitate genotype- phenotype correlations, actually not completely defined, particularly if a specific mutation underlies phenotypes. We report on a group of 15 patients with clinical features of GEFS+ (3), classical (7), or borderline severe myoclonic epilepsy of infancy (5), in whom genetic analysis of patients and parents and follow-up period were performed to establish genotype-phenotype correlations, to enrich literature and databases data. We found 11 pathogenic mutations (5 novel: c.80 G>C exon 1; c.187 T>C exon 1; c.3061 G>T exon 16; c.4297 G>A exon 22; c.5579 delA ins TCTCC exon 26) and 4 novel nucleotidic variants (IVS5+38 C>T intron 5; IVS8-19 C>T intron 18; c.4945 C>T exon 25; c.5127 C>A exon 26). Paternal inheritance was observed in 4/4 cases.
authors: Child Neurology, Paediatric Department, I Faculty of Medicine, Sapienza University c/o Policlinico Umberto I, Rome, Italy.
authors: Francesco
authors: F
authors: Nicita
authors: Alberto
authors: A
authors: Spalice
authors: Laura
authors: L
authors: Papetti
authors: Fabiana
authors: F
authors: Ursitti
authors: Pasquale
authors: P
authors: Parisi
authors: Elena
authors: E
authors: Gennaro
authors: Federico
authors: F
authors: Zara
authors: Paola
authors: P
authors: Iannetti
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels