Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
BMC Neurol
; 24(1): 31, 2024 Jan 17.
Article
en En
| MEDLINE
| ID: mdl-38233770
ABSTRACT
BACKGROUND:
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.METHODS:
In this study, we describe clinical and genetic results on eight individuals from six families with SCN8A pathogenic variants identified via exome sequencing.RESULTS:
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.CONCLUSIONS:
This work expands the clinical and genotypic spectrum of SCN8A-related disorders and provides electrophysiological results on a novel loss-of-function SCN8A variant.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Epilepsia Generalizada
/
Epilepsia
/
Disfunción Cognitiva
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
BMC Neurol
Asunto de la revista:
NEUROLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Canadá