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

Precision therapy for epilepsy due to KCNT1 mutations

Neurology ◽  
2017 ◽  
Vol 90 (1) ◽  
pp. e67-e72 ◽  
Author(s):  
Saul A. Mullen ◽  
Patrick W. Carney ◽  
Annie Roten ◽  
Michael Ching ◽  
Paul A. Lightfoot ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Seizure Frequency ◽  
Clinical Trial Registry ◽  
Gain Of Function ◽  
Cardiac Side Effects ◽  
Channel Gene ◽  
Precision Therapy ◽  
Severe Epilepsy ◽  
Potassium Channel Gene ◽  
Serum Quinidine

ObjectiveTo evaluate quinidine as a precision therapy for severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1.MethodsA single-center, inpatient, order-randomized, blinded, placebo-controlled, crossover trial of oral quinidine included 6 patients with severe autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) due to KCNT1 mutation. Order was block randomized and blinded. Four-day treatment blocks were used with a 2-day washout between. Dose started at 900 mg over 3 divided doses then, in subsequent participants, was reduced to 600 mg, then 300 mg. Primary outcome was seizure frequency measured on continuous video-EEG in those completing the trial.ResultsProlonged QT interval occurred in the first 2 patients at doses of 900 and 600 mg quinidine per day, respectively, despite serum quinidine levels well below the therapeutic range (0.61 and 0.51 μg/mL, reference range 1.3–5.0 μg/mL). Four patients completed treatment with 300 mg/d without adverse events. Patients completing the trial had very frequent seizures (mean 14 per day, SD 7, median 13, interquartile range 10–18). Seizures per day were nonsignificantly increased by quinidine (median 2, 95% confidence interval −1.5 to +5, p = 0.15) and no patient had a 50% seizure reduction.ConclusionQuinidine did not show efficacy in adults and teenagers with ADNFLE. Dose-limiting cardiac side effects were observed even in the presence of low measured serum quinidine levels. Although small, this trial suggests use of quinidine in ADNFLE is likely to be ineffective coupled with considerable cardiac risks.Clinical trials registrationAustralian Therapeutic Goods Administration Clinical Trial Registry (trial number 2015/0151).Classification of evidenceThis study provides Class II evidence that for persons with severe epilepsy due to gain of function mutations in the potassium channel gene KCNT1, quinidine does not significantly reduce seizure frequency.

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

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 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
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