{Reference Type}: Journal Article
{Title}: Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
{Author}: Hebbar M;Al-Taweel N;Gill I;Boelman C;Dean RA;Goodchild SJ;Mezeyova J;Shuart NG;Johnson JP;Lee J;Michoulas A;Huh LL;Armstrong L;Connolly MB;Demos MK;
{Journal}: BMC Neurol
{Volume}: 24
{Issue}: 1
{Year}: 2024 Jan 17
{Factor}: 2.903
{DOI}: 10.1186/s12883-023-03478-y
{Abstract}: <B>BACKGROUND: </B>SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia.<BR><B>METHODS: </B>In this study, we describe clinical and genetic results on eight individuals from six families with SCN8A pathogenic variants identified via exome sequencing.<BR><B>RESULTS: </B>Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Three novel and three reported variants were observed in SCN8A. Electrophysiological analysis in transfected cells revealed a loss-of-function variant in Patient 4.<BR><B>CONCLUSIONS: </B>This work expands the clinical and genotypic spectrum of SCN8A-related disorders and provides electrophysiological results on a novel loss-of-function SCN8A variant.