Literature DB >> 17000989

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.

J C Mulley1, P Nelson, S Guerrero, L Dibbens, X Iona, J M McMahon, L Harkin, J Schouten, S Yu, S F Berkovic, I E Scheffer.   

Abstract

We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.

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Year:  2006        PMID： 17000989     DOI： 10.1212/01.wnl.0000237322.04338.2b

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  17 in total

1.  Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Authors:  S E Heron; K Cox; B E Grinton; S M Zuberi; S Kivity; Z Afawi; R Straussberg; S F Berkovic; I E Scheffer; J C Mulley
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

Review 2.  Genetics of epilepsy and relevance to current practice.

Authors:  Roberto Michelucci; Elena Pasini; Patrizia Riguzzi; Lilia Volpi; Emanuela Dazzo; Carlo Nobile
Journal:  Curr Neurol Neurosci Rep       Date:  2012-08       Impact factor: 5.081

Review 3.  Epilepsy and the new cytogenetics.

Authors:  John C Mulley; Heather C Mefford
Journal:  Epilepsia       Date:  2011-01-26       Impact factor: 5.864

Review 4.  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

5.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

6.  SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

Authors:  Huihui Sun; Yuehua Zhang; Jianmin Liang; Xiaoyan Liu; Xiuwei Ma; Husheng Wu; Keming Xu; Jiong Qin; Yu Qi; Xiru Wu
Journal:  J Hum Genet       Date:  2008-06-20       Impact factor: 3.172

7.  Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Authors:  Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; Wassila Carpentier; Sophie Julia; Alexandra Afenjar; Agnès Gautier; François Rivier; Sophie Meyer; Patrick Berquin; Marie Hélias; Isabelle Py; Serge Rivera; Nadia Bahi-Buisson; Isabelle Gourfinkel-An; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric Leguern
Journal:  PLoS Genet       Date:  2009-02-13       Impact factor: 5.917

Review 8.  Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

Authors:  Danielle M Andrade
Journal:  Hum Genet       Date:  2009-06-18       Impact factor: 4.132

Review 9.  Channelopathies in idiopathic epilepsy.

Authors:  Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

10.  Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Authors:  Ruth Ottman; Shinichi Hirose; Satish Jain; Holger Lerche; Iscia Lopes-Cendes; Jeffrey L Noebels; José Serratosa; Federico Zara; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-01-19       Impact factor: 5.864
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