Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1
Abstract: 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 KCNT1-related ADSHE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems. In this study, a 12-year-old Chinese girl was referred for genetic evaluation of grand mal seizures. She had paroxysmal convulsions of the limbs and loss of consciousness just after falling asleep without obvious triggers. A novel heterozygous missense mutation c.2797C > T (p.Arg933Cys) in exon 24 of the KCNT1 was identified in the proband by whole-exome sequencing and Sanger sequencing, and the clinical symptoms were compatible with ADSHE. The proband’s father has been showing similar symptoms for more than 20 years and had the same site mutation. Her mother and sister were physically and genetically normal. The study revealed a novel variant in the KCNT1 and expanded the mutation spectrum for this clinical condition. Our results provide further evidence supporting a causative role in KCNT1 variants in ADSHE.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1 ; volume:13 ; number:1 ; year:2022 ; pages:240-245 ; extent:6
Translational Neuroscience ; 13, Heft 1 (2022), 240-245 (gesamt 6)
- Creator
-
Lu, Jinyu
Zhao, Gaohua
Lv, Dayao
Cao, Lanxiao
Zhao, Guohua
- DOI
-
10.1515/tnsci-2022-0241
- URN
-
urn:nbn:de:101:1-2022083014144681068780
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:36 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Lu, Jinyu
- Zhao, Gaohua
- Lv, Dayao
- Cao, Lanxiao
- Zhao, Guohua
Other Objects (12)
A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica
Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report
Autosomal dominant intellectual disability
Molekulargenetische Charakterisierung einer neuen autosomal-dominant vererbten Myopathie : die autosomal dominante Filaminopathie
Autosomal dominante hereditäre spastische Paraplegie: neue Mutationen im REEP1-Gen (SPG 31)
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene
Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1
A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica
Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report
Autosomal dominant intellectual disability
Molekulargenetische Charakterisierung einer neuen autosomal-dominant vererbten Myopathie : die autosomal dominante Filaminopathie
Autosomal dominante hereditäre spastische Paraplegie: neue Mutationen im REEP1-Gen (SPG 31)
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene
Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1
A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica
Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report
Autosomal dominant intellectual disability
Molekulargenetische Charakterisierung einer neuen autosomal-dominant vererbten Myopathie : die autosomal dominante Filaminopathie
Autosomal dominante hereditäre spastische Paraplegie: neue Mutationen im REEP1-Gen (SPG 31)
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene