A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy

We describe a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) and psychiatric problems in whom whole-exome family trio sequencing identified a heterozygous mutation in the potassium channel subfamily T, member 1 (KCNT1), a sodium-gated potassium channel gene, w...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Xie Na, Qin Weiwei, Deng Jianzhong, Qi Jinxing, Niu Dewang, Lu Guifeng, Wang Qun
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2021
Materias:	kcnt1 severe adnfle autosomal dominant refractory epilepsy psychiatric symptoms Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/212d8405c589450b98e83756c5795c27
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:212d8405c589450b98e83756c5795c27
record_format	dspace
spelling	oai:doaj.org-article:212d8405c589450b98e83756c5795c272021-12-05T14:11:05ZA novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy2081-693610.1515/tnsci-2020-0182https://doaj.org/article/212d8405c589450b98e83756c5795c272021-09-01T00:00:00Zhttps://doi.org/10.1515/tnsci-2020-0182https://doaj.org/toc/2081-6936We describe a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) and psychiatric problems in whom whole-exome family trio sequencing identified a heterozygous mutation in the potassium channel subfamily T, member 1 (KCNT1), a sodium-gated potassium channel gene, which was a novel missense mutation c.2153A>T (p. Asp718Val). The typical characteristics of the three patients in the family were refractory epilepsy, acquired cognitive impairment, and psychiatric problems, which include hallucinations and suicidal thoughts and behaviors. The age at onset was found to be earlier in son and daughter of the proband than that of the proband, as proven by the proband’s history of an epileptic seizure at the age of 16 years and her son’s and daughter’s history of seizures at the age of 8 years. Magnetic resonance imaging findings were negative for any abnormalities. Because of psychiatric symptoms, these three patients were administered risperidone at different times during their illness. The protestor’s son had tried fenofibrate treatment, but clinical remission was unclear. In summary, our findings broadened the mutation database in relation to KCNT1 and implicated the sodium-gated potassium channel complex in ADNFLE, more broadly, in the pathogenesis of focal epilepsies.Xie NaQin WeiweiDeng JianzhongQi JinxingNiu DewangLu GuifengWang QunDe Gruyterarticlekcnt1severe adnfleautosomal dominantrefractory epilepsypsychiatric symptomsNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENTranslational Neuroscience, Vol 12, Iss 1, Pp 330-334 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	kcnt1 severe adnfle autosomal dominant refractory epilepsy psychiatric symptoms Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	kcnt1 severe adnfle autosomal dominant refractory epilepsy psychiatric symptoms Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Xie Na Qin Weiwei Deng Jianzhong Qi Jinxing Niu Dewang Lu Guifeng Wang Qun A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
description	We describe a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) and psychiatric problems in whom whole-exome family trio sequencing identified a heterozygous mutation in the potassium channel subfamily T, member 1 (KCNT1), a sodium-gated potassium channel gene, which was a novel missense mutation c.2153A>T (p. Asp718Val). The typical characteristics of the three patients in the family were refractory epilepsy, acquired cognitive impairment, and psychiatric problems, which include hallucinations and suicidal thoughts and behaviors. The age at onset was found to be earlier in son and daughter of the proband than that of the proband, as proven by the proband’s history of an epileptic seizure at the age of 16 years and her son’s and daughter’s history of seizures at the age of 8 years. Magnetic resonance imaging findings were negative for any abnormalities. Because of psychiatric symptoms, these three patients were administered risperidone at different times during their illness. The protestor’s son had tried fenofibrate treatment, but clinical remission was unclear. In summary, our findings broadened the mutation database in relation to KCNT1 and implicated the sodium-gated potassium channel complex in ADNFLE, more broadly, in the pathogenesis of focal epilepsies.
format	article
author	Xie Na Qin Weiwei Deng Jianzhong Qi Jinxing Niu Dewang Lu Guifeng Wang Qun
author_facet	Xie Na Qin Weiwei Deng Jianzhong Qi Jinxing Niu Dewang Lu Guifeng Wang Qun
author_sort	Xie Na
title	A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
title_short	A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
title_full	A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
title_fullStr	A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
title_full_unstemmed	A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
title_sort	novel kcnt1 mutation in a chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/212d8405c589450b98e83756c5795c27
work_keys_str_mv	AT xiena anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT qinweiwei anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT dengjianzhong anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT qijinxing anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT niudewang anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT luguifeng anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT wangqun anovelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT xiena novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT qinweiwei novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT dengjianzhong novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT qijinxing novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT niudewang novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT luguifeng novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy AT wangqun novelkcnt1mutationinachinesefamilywithsevereautosomaldominantnocturnalfrontallobeepilepsy
_version_	1718371407235121152

A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy

Ejemplares similares