Abstract Details

Title SCN5A Mutation Positivity in a Patient with Juvenile Myoclonic Epilepsy and Congenital Long-QT Syndrome Type 3

Topic Epilepsy

Presentation(s) P05 - (-)

Poster/Presentation
Number 090

Objective

Background BACKGROUND: JME is an idiopathic generalized epilepsy where variation in several genes including GABRA1, GABRD, CACNB4, CLCN2, EFHC1 and additional loci have been identified as susceptibility factors. LQT3 is a subtype of congenital long QT syndrome, an arrhythmogenic disorder which may predispose to syncope and sudden cardiac death. Mutations in the SCN5A gene have been associated with this condition.

Design/Methods DESIGN/METHODS: We report the case of a 37-year-old Caucasian woman who initially presented with a generalized tonic-clonic seizure at age 19 following an episode of sleep deprivation and alcohol intake. She also reported a longstanding history of intermittent, early morning myoclonic jerks of the arm. EEG demonstrated generalized 4-5 Hz polyspike-wave complexes. She was diagnosed with JME and successfully managed with Valproate. Developmental history was notable for one febrile seizure during infancy. She has one sibling who also suffered from febrile seizures, but family history is otherwise unremarkable for epilepsy. At age 36, she was diagnosed with LQT3 following an investigation for palpitations. Genetic analysis confirmed 1051G->A mutation in exon 9 of the SCN5A gene. Family history is negative for syncope or sudden cardiac death. She is managed medically and with consideration for an implantable cardioverter defibrillator.

Results RESULTS: Ion channelopathies are associated with both JME and LQT3. The genetic basis of JME is heterogeneous, and the phenotype likely reflects an interaction of both known and as-yet unidentified genetic and environmental factors1. While a novel SCN5A mutation was reported in a SUDEP patient with idiopathic epilepsy3, the SCN5A gene has not been associated with JME to date.

Conclusions CONCLUSIONS: Although the presence of SCN5A mutation in our patient does not demonstrate a causal relationship, this does raise intrigue of its possible role in epileptogenesis.

Authors/Disclosures
Karen Ho, MD PRESENTER	No disclosure on file
Michel Melanson, MD (Kingston General Hosp)	No disclosure on file
	No disclosure on file

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