Literature DB >> 28081520

Mesial temporal lobe epilepsy associated with KCNT1 mutation.

N Hansen1, G Widman2, E Hattingen3, C E Elger2, W S Kunz2.   

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Year:  2016        PMID： 28081520     DOI： 10.1016/j.seizure.2016.12.018

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  8 in total

1.  Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Authors:  Robertino Dilena; Jacopo C DiFrancesco; Maria Virginia Soldovieri; Antonella Giacobbe; Paolo Ambrosino; Ilaria Mosca; Maria Albina Galli; Sophie Guez; Monica Fumagalli; Francesco Miceli; Dario Cattaneo; Francesca Darra; Elena Gennaro; Federico Zara; Pasquale Striano; Barbara Castellotti; Cinzia Gellera; Costanza Varesio; Pierangelo Veggiotti; Maurizio Taglialatela
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

2.  The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.

Authors:  Christina Cherian; Juan P Appendino; Setareh Ashtiani; Paolo Federico; Christine P Molnar; Marina Kerr; Aneal Khan; Ping Yee Billie Au; Karl Martin Klein
Journal:  J Neurol       Date:  2021-09-19       Impact factor: 4.849

Review 3.  Small-molecule inhibitors of Slack potassium channels as potential therapeutics for childhood epilepsies.

Authors:  Alshaima'a M Qunies; Kyle A Emmitte
Journal:  Pharm Pat Anal       Date:  2022-04-04

4.  Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.

Authors:  Tracy S Gertler; Christopher H Thompson; Carlos G Vanoye; John J Millichap; Alfred L George
Journal:  Ann Clin Transl Neurol       Date:  2019-07-15       Impact factor: 4.511

5.  Slo2 potassium channel function depends on RNA editing-regulated expression of a SCYL1 protein.

Authors:  Long-Gang Niu; Ping Liu; Zhao-Wen Wang; Bojun Chen
Journal:  Elife       Date:  2020-04-21       Impact factor: 8.140

6.  Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Authors:  Giulia Barcia; Nicole Chemaly; Mathieu Kuchenbuch; Monika Eisermann; Stéphanie Gobin-Limballe; Viorica Ciorna; Alfons Macaya; Laetitia Lambert; Fanny Dubois; Diane Doummar; Thierry Billette de Villemeur; Nathalie Villeneuve; Marie-Anne Barthez; Caroline Nava; Nathalie Boddaert; Anna Kaminska; Nadia Bahi-Buisson; Mathieu Milh; Stéphane Auvin; Jean-Paul Bonnefont; Rima Nabbout
Journal:  Neurol Genet       Date:  2019-10-25

7.  KCNA2 Autoimmunity in Progressive Cognitive Impairment: Case Series and Literature Review.

Authors:  Charles Timäus; Philipp von Gottberg; Sina Hirschel; Claudia Lange; Jens Wiltfang; Niels Hansen
Journal:  Brain Sci       Date:  2021-01-12

Review 8.  The Locus Coeruleus Noradrenaline System in Delirium.

Authors:  Niels Hansen; Alina Isabel Rediske
Journal:  Front Aging Neurosci       Date:  2021-12-08       Impact factor: 5.750
  8 in total

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