Naslov
Mutation of Phe365Ser in SCN1A gene causes severe myoclonic epilepsy of infancy

Autori
Barišić, Nina ; de Jonghe, Peter ; Claes, L ; Ann, L. ; Claeys, K. ; Lehman, Ivan

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Epilepsy / - , 2006

Skup
7th European Congress on Epileptology

Mjesto i datum
Helsinki, Finska, 02.07.2006. - 06.07.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Epilepsy; SMEI; SCN1A; children

Sažetak
PURPOSE : We present a boy at the age of 11 with severe myoclonic epilepsy of infancy and mutation Phe 365 Ser in SCN 1 A gene. METHODS: Clinical examination, EEG, brain MR scans, laboratory tests for exclusion of inherited metabolic disorders and molecular genetic analysis were performed. Patient was born from normal pregnancy, parents are nonconsanguineous. He developed the first seizures at the age of 16 months during febrile illness. The seizures include unilateral hemiconvulsions with transitory postictal hemiparesis, atypical absences, secondary generalized grand mal and status epilepticus. He developed ataxia and speech regression at the age of 3 years. He was treated unsuccessfully with all combinations of available antiepileptics. RESULTS: EEG shows slow background activity, with high voltage slow waves, focal and paroxysmal discharges. His brain CT and MR scans are normal On exam he shows mild mental retardation associated with ataxia, bradikinesia and bradilalia and signs of corticospinal tract involvement as well as. DNA sequencing analysis of the coding exons of SCN1 A showed nucleotide change c. 1094T>C in exon 8 predicting phenylalanine to serine substitution at codon 365 (Phe 365 Ser). Parents are not carriers for the same mutation. Patient is heterozygous carrier of a mutation in SCN1 A which has not yet been described. CONCLUSIONS: Newly discovered Phe 365Ser de novo mutation in SCN1A gene is probably cause of SMEI in our patient.

Izvorni jezik
Engleski

POVEZANOST RADA