Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

2014 ◽  
Vol 47 (1) ◽  
pp. 73-77 ◽  
Author(s):  
Cas Simons ◽  
Lachlan D Rash ◽  
Joanna Crawford ◽  
Linlin Ma ◽  
Ben Cristofori-Armstrong ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

scholarly journals Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jinyi Zhang ◽  
Christian R. Juhl ◽  
Louise Hylten-Cavallius ◽  
Morten Salling-Olsen ◽  
Allan Linneberg ◽  
...  
Keyword(s):  
Case Report ◽  
Potassium Channel ◽  
Gain Of Function ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

Analysis of a Human Brain Voltage-Gated Potassium Channel Gene, KCNA6 (HBK2), in Patients with Juvenile Myoclonic Epilepsy

1995 ◽  
Vol 26 (06) ◽  
pp. 333-334 ◽  
Author(s):  
M. Rees ◽  
F. Elmslie ◽  
W. Whitehouse ◽  
A. Sundqvist ◽  
M. Gardiner
Keyword(s):  
Human Brain ◽  
Potassium Channel ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

Initial isolation and analysis of the human Kv1.7 ( KCNA7 ) gene, a member of the voltage-gated potassium channel gene family

Gene ◽  
2001 ◽  
Vol 268 (1-2) ◽  
pp. 115-122 ◽  
Author(s):  
Vladimir I Kashuba ◽  
Sergei M Kvasha ◽  
Alexei I Protopopov ◽  
Rinat Z Gizatullin ◽  
Alla V Rynditch ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Gene Family ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

scholarly journals Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

2015 ◽  
Vol 47 (3) ◽  
pp. 304-304 ◽  
Author(s):  
Cas Simons ◽  
Lachlan D Rash ◽  
Joanna Crawford ◽  
Linlin Ma ◽  
Ben Cristofori-Armstrong ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

scholarly journals Characterization of the Transcription Unit of Mouse Kv1.4, a Voltage-gated Potassium Channel Gene

1996 ◽  
Vol 271 (26) ◽  
pp. 15629-15634 ◽  
Author(s):  
Randy S. Wymore ◽  
Deborah Negulescu ◽  
Keith Kinoshita ◽  
Katalin Kalman ◽  
Jayashree Aiyar ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Transcription Unit ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

scholarly journals The study of sodium and potassium channel gene single-nucleotide variation significance in non-mechanical forms of epilepsy

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ozada Khamdiyeva ◽  
Zhanerke Tileules ◽  
Gulminyam Baratzhanova ◽  
Anastassiya Perfilyeva ◽  
Leyla Djansugurova
Keyword(s):  
Ion Channel ◽  
Potassium Channel ◽  
De Novo ◽  
Potassium Ion ◽  
Dravet Syndrome ◽  
De Novo Mutations ◽  
Single Nucleotide ◽  
Channel Gene ◽  
Sodium And Potassium ◽  
Potassium Channel Gene

Abstract Background Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsive nature that develop against a background of lost or preserved consciousness. The genetic component plays a large role in the etiology of idiopathic forms of epilepsy. The study of the molecular genetic basis of neurological disorders has led to a rapidly growing number of gene mutations known to be involved in hereditary ion channel dysfunction. The aim of this research was to evaluate the involvement of single-nucleotide variants that modify the function of genes (SCN1A, KCNT1, KCNTС1, and KCNQ2) encoding sodium and potassium ion channel polypeptides in the development of epilepsy. Results De novo mutations in the sodium channel gene SCN1A c.5347G>A (p. Ala1783Thr) were detected in two patients with Dravet syndrome, with a deletion in exon 26 found in one. Three de novo mutations in the potassium channel gene KCNT1 c.2800G>A (p. Ala934Thr), were observed in two patients with temporal lobe epilepsy (TLE) and one patient with residual encephalopathy. Moreover, a control cohort matched to the case cohort did not reveal any SNVs among conditionally healthy individuals, supporting the pathogenic significance of the studied SNVs. Conclusion Our results are supported by literature data showing that the sodium ion channel gene SCN1A c.5347G>A mutation may be involved in the pathogenesis of Dravet syndrome. We also note that the c.2800G>A mutation in the potassium channel gene KCNT1 can cause not only autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) but also other forms of epilepsy. To treat pathogenetic mutations that accelerate the function of sodium and potassium ion channels, we recommend ion channel blockade drug therapy.

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