Literature DB >> 27159988

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val.

Katrine M Johannesen1,2, Maria J Miranda3, Holger Lerche4, Rikke S Møller5,6.   

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Year:  2016        PMID： 27159988     DOI： 10.1007/s00415-016-8149-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  5 in total

1.  Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

Authors:  Yunxiang Liao; Liesbet Deprez; Snezana Maljevic; Julika Pitsch; Lieve Claes; Dimitrina Hristova; Albena Jordanova; Sirpa Ala-Mello; Astrid Bellan-Koch; Dragica Blazevic; Simone Schubert; Evan A Thomas; Steven Petrou; Albert J Becker; Peter De Jonghe; Holger Lerche
Journal:  Brain       Date:  2010-04-05       Impact factor: 13.501

2.  SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

Authors:  Eric Herlenius; Sarah E Heron; Bronwyn E Grinton; Deborah Keay; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Journal:  Epilepsia       Date:  2007-03-26       Impact factor: 5.864

3.  SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

Authors:  Y Liao; A-K Anttonen; E Liukkonen; E Gaily; S Maljevic; S Schubert; A Bellan-Koch; S Petrou; V E Ahonen; H Lerche; A-E Lehesjoki
Journal:  Neurology       Date:  2010-10-19       Impact factor: 9.910

4.  Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Authors:  N Schwarz; A Hahn; T Bast; S Müller; H Löffler; S Maljevic; E Gaily; I Prehl; S Biskup; T Joensuu; A-E Lehesjoki; B A Neubauer; H Lerche; U B S Hedrich
Journal:  J Neurol       Date:  2015-12-08       Impact factor: 4.849

Review 5.  Overview of the voltage-gated sodium channel family.

Authors:  Frank H Yu; William A Catterall
Journal:  Genome Biol       Date:  2003-02-24       Impact factor: 13.583
  5 in total
  4 in total

Review 1.  Progress in Understanding and Treating SCN2A-Mediated Disorders.

Authors:  Stephan J Sanders; Arthur J Campbell; Jeffrey R Cottrell; Rikke S Moller; Florence F Wagner; Angie L Auldridge; Raphael A Bernier; William A Catterall; Wendy K Chung; James R Empfield; Alfred L George; Joerg F Hipp; Omar Khwaja; Evangelos Kiskinis; Dennis Lal; Dheeraj Malhotra; John J Millichap; Thomas S Otis; Steven Petrou; Geoffrey Pitt; Leah F Schust; Cora M Taylor; Jennifer Tjernagel; John E Spiro; Kevin J Bender
Journal:  Trends Neurosci       Date:  2018-04-23       Impact factor: 13.837

2.  Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.

Authors:  Qi Huang; Lu Yu; Meigang Ma; Hengchang Qi; Yuan Wu
Journal:  Medicine (Baltimore)       Date:  2019-02       Impact factor: 1.889

3.  Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Authors:  Carlotta Spagnoli; Carlo Fusco; Antonio Percesepe; Vincenzo Leuzzi; Francesco Pisani
Journal:  Int J Mol Sci       Date:  2021-04-18       Impact factor: 5.923

Review 4.  Episodic Ataxias: Faux or Real?

Authors:  Paola Giunti; Elide Mantuano; Marina Frontali
Journal:  Int J Mol Sci       Date:  2020-09-05       Impact factor: 5.923
  4 in total

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