Literature DB >> 18339639

Somatic mosaicism as a basic epileptogenic mechanism?

Dick Lindhout1.   

Abstract

Mesh：

Year:  2008        PMID： 18339639     DOI： 10.1093/brain/awn056

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  13 in total

Review 1.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

2.  When Should Genetic Testing Be Performed in Epilepsy Patients?

Authors:  Annapurna Poduri
Journal:  Epilepsy Curr       Date:  2017 Jan-Feb       Impact factor: 7.500

3.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

4.  Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Authors:  Melodie R Winawer; Nicole G Griffin; Jorge Samanamud; Evan H Baugh; Dinesh Rathakrishnan; Senthilmurugan Ramalingam; David Zagzag; Catherine A Schevon; Patricia Dugan; Manu Hegde; Sameer A Sheth; Guy M McKhann; Werner K Doyle; Gerald A Grant; Brenda E Porter; Mohamad A Mikati; Carrie R Muh; Colin D Malone; Ann Marie R Bergin; Jurriaan M Peters; Danielle K McBrian; Alison M Pack; Cigdem I Akman; Christopher M LaCoursiere; Katherine M Keever; Joseph R Madsen; Edward Yang; Hart G W Lidov; Catherine Shain; Andrew S Allen; Peter D Canoll; Peter B Crino; Annapurna H Poduri; Erin L Heinzen
Journal:  Ann Neurol       Date:  2018-05-16       Impact factor: 10.422

Review 5.  Genomic medicine and neurological disease.

Authors:  Philip M Boone; Wojciech Wiszniewski; James R Lupski
Journal:  Hum Genet       Date:  2011-05-19       Impact factor: 4.132

Review 6.  Genetics of the epilepsies: where are we and where are we going?

Authors:  Ingo Helbig; Daniel H Lowenstein
Journal:  Curr Opin Neurol       Date:  2013-04       Impact factor: 5.710

7.  The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

Authors:  Roman Makarov; Bernhard Steiner; Zoran Gucev; Velibor Tasic; Peter Wieacker; Ilse Wieland
Journal:  BMC Med Genet       Date:  2010-06-17       Impact factor: 2.103

8.  Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Authors:  Michael S Hildebrand; Nicole G Griffin; John A Damiano; Elisa J Cops; Rosemary Burgess; Ezgi Ozturk; Nigel C Jones; Richard J Leventer; Jeremy L Freeman; A Simon Harvey; Lynette G Sadleir; Ingrid E Scheffer; Heather Major; Benjamin W Darbro; Andrew S Allen; David B Goldstein; John F Kerrigan; Samuel F Berkovic; Erin L Heinzen
Journal:  Am J Hum Genet       Date:  2016-07-21       Impact factor: 11.025

9.  Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

Authors:  J J T van Harssel; S Weckhuysen; M J A van Kempen; K Hardies; N E Verbeek; C G F de Kovel; W B Gunning; E van Daalen; M V de Jonge; A C Jansen; R J Vermeulen; W F M Arts; H Verhelst; A Fogarasi; J F de Rijk-van Andel; A Kelemen; D Lindhout; P De Jonghe; B P C Koeleman; A Suls; E H Brilstra
Journal:  Neurogenetics       Date:  2013-01-20       Impact factor: 2.660

Review 10.  Genetic forms of epilepsies and other paroxysmal disorders.

Authors:  Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Semin Neurol       Date:  2014-09-05       Impact factor: 3.420
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