Identification of genetic loci and mutations in SLC1A1 for a sensory epilepsy triggered by touch and temperature stimuli

Abstract

Epilepsy is a neurological condition marked by recurrent and unprovoked seizures resulting from episodic cortical hyperexcitability. Epilepsy is a relatively common disorder with a worldwide lifetime cumulative incidence of about 3% (Hildebrand et al 2013) and affects one in 200 children (Poduri and Lowenstein 2011). Epileptic seizures are usually intermittent, self-limiting and occur with or without loss of consciousness. Generalized seizures are asymmetric and originate at certain point/s within cortical regions, but rapidly distribute among cortical or sub-cortical structures manifesting bilateral symptoms in the body. Focal seizures originate from within one hemisphere, may be sub-cortical structures and can be distinctly localized (Berg et al 2010). Epilepsy is perceived as a network-level disorder due to altered cellular excitability and neuro-developmental abnormalities. The molecular mechanisms of epilepsies are expected to involve diverse categories of genes contributing to seizure onset.