Literature DB >> 26195193

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.

Zhong-Bin Zhang1, Mao-Qiang Tian2, Kai Gao1, Yu-Wu Jiang1, Ye Wu1.   

Abstract

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Year:  2015        PMID： 26195193     DOI： 10.1002/mds.26216

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  23 in total

1.  Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.

Authors:  Xiaofei Du; Joao L Carvalho-de-Souza; Cenfu Wei; Willy Carrasquel-Ursulaez; Yenisleidy Lorenzo; Naileth Gonzalez; Tomoya Kubota; Julia Staisch; Timothy Hain; Natalie Petrossian; Michael Xu; Ramon Latorre; Francisco Bezanilla; Christopher M Gomez
Journal:  Proc Natl Acad Sci U S A       Date:  2020-03-04       Impact factor: 11.205

2.  De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

Authors:  Lina Liang; Xia Li; Sébastien Moutton; Samantha A Schrier Vergano; Benjamin Cogné; Anne Saint-Martin; Anna C E Hurst; Yushuang Hu; Olaf Bodamer; Julien Thevenon; Christina Y Hung; Bertrand Isidor; Bénédicte Gerard; Adelaide Rega; Sophie Nambot; Daphné Lehalle; Yannis Duffourd; Christel Thauvin-Robinet; Laurence Faivre; Stéphane Bézieau; Leon S Dure; Daniel C Helbling; David Bick; Chengqi Xu; Qiuyun Chen; Grazia M S Mancini; Antonio Vitobello; Qing Kenneth Wang
Journal:  Hum Mol Genet       Date:  2019-09-01       Impact factor: 6.150

Review 3.  BK Channels in the Central Nervous System.

Authors:  C Contet; S P Goulding; D A Kuljis; A L Barth
Journal:  Int Rev Neurobiol       Date:  2016-05-13       Impact factor: 3.230

Review 4.  The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Authors:  Roberto Erro; Kailash P Bhatia; Alberto J Espay; Pasquale Striano
Journal:  Mov Disord       Date:  2017-01-16       Impact factor: 10.338

Review 5.  Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Authors:  Julia Oyrer; Snezana Maljevic; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou; Christopher A Reid
Journal:  Pharmacol Rev       Date:  2018-01       Impact factor: 25.468

6.  Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.

Authors:  Brahim Tabarki; Nabil AlMajhad; Amal AlHashem; Ranad Shaheen; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-08-27       Impact factor: 4.132

7.  A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.

Authors:  Guohui Zhang; Rebecca A Gibson; Marie McDonald; Pengfei Liang; Po Wei Kang; Jingyi Shi; Huanghe Yang; Jianmin Cui; Mohamad A Mikati
Journal:  Mov Disord       Date:  2020-07-07       Impact factor: 10.338

8.  Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

Authors:  Niccolò E Mencacci; Marisa M Brockmann; Jinye Dai; Sander Pajusalu; Burcu Atasu; Joaquin Campos; Gabriela Pino; Paulina Gonzalez-Latapi; Christopher Patzke; Michael Schwake; Arianna Tucci; Alan Pittman; Javier Simon-Sanchez; Gemma L Carvill; Bettina Balint; Sarah Wiethoff; Thomas T Warner; Apostolos Papandreou; Audrey Soo; Reet Rein; Liis Kadastik-Eerme; Sanna Puusepp; Karit Reinson; Tiiu Tomberg; Hasmet Hanagasi; Thomas Gasser; Kailash P Bhatia; Manju A Kurian; Ebba Lohmann; Katrin Õunap; Christian Rosenmund; Thomas C Südhof; Nicholas W Wood; Dimitri Krainc; Claudio Acuna
Journal:  J Clin Invest       Date:  2021-04-01       Impact factor: 14.808

Review 9.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003

10.  An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Authors:  Jacob P Miller; Hans J Moldenhauer; Sotirios Keros; Andrea L Meredith
Journal:  Channels (Austin)       Date:  2021-12       Impact factor: 2.581
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