KCNT1-related epilepsyQuinidinePhenotype-genotype associationsKCNT1 has been known to encode a subunit of the tetrameric sodium activated potassium channel (KNa1.1). Pathogenic variants of KCNT1, especially gain-of-function (GOF) variants, are associated with multiple epileptic disorders which are ...
Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI‐negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that KCNT1 epileptogenicity may result not only from dysregulated excitability by...
followed by a fast rhythmic sharp activity in the mesial frontal and bitemporal regions.The patient was diagnosed with KCNT1-related epilepsy,epileptic encephalopathy and cognitive disorder.He was refractory to multiple anti-seizure medicines(ASM)and ketogenic diet.After VNS treatment at age 7,the ...
Remote study visits represent an alternative strategy for studying this disorder.Design/Methods: Clinically and genetically confirmed KCNT1-related epilepsy patients will be followed for 12 months in a single-center fully-remote study. Remote elements include electronic informed consent, telemedicine study...
Children with KCNT1-related epilepsy usually have early onset of disease, are nonverbal, and are refractory to ASM. This boy with drug-resistant KCNT1-related epilepsy showed significantly reduced seizure frequency after VNS. This report may provide reference for management of cases of KCNT1-...
Altogether, these results suggest that, based on the proband's genetic and functional characteristics, the antidepressant drug fluoxetine may be repurposed for the treatment of focal epilepsy caused by gain-of-function variants in KCNT1. Further studies are needed to verify ...
Clinical and molecular characterisation of KCNT1-related severe early onset epilepsydoi:10.1212/WNL.0000000000004762Amy MctagueUmesh NairSony MalhotraManju Kurian
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.doi:10.1002/ACN3.708Guido RubboliGiuseppe PlazziFabienne PicardLino NobiliEdouard HirschJamel ChellyRichard A. PraysonJean BoutonnatManuela Bramerio...
Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is characterized by severe sleep-related rigid hypermotor seizures. The pathogenic genes of ADSHE include genes encoding subunits of the neuronal nicotinic acetylcholine receptor, KCNT1, DEPDC5, NPRL2/3, CABP4, and CRH. Individuals with...