Literature DB >> 19874387

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

Stéphane Auvin, Muriel Holder-Espinasse, Marie-Dominique Lamblin, Joris Andrieux.   

Abstract

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Year:  2009        PMID： 19874387     DOI： 10.1111/j.1528-1167.2009.02189.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  18 in total

1.  Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Authors:  Maria C Bonaglia; Susan Marelli; Francesca Novara; Simona Commodaro; Renato Borgatti; Grazia Minardo; Luigi Memo; Elisabeth Mangold; Silvana Beri; Claudio Zucca; Daniele Brambilla; Massimo Molteni; Roberto Giorda; Ruthild G Weber; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

2.  Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Authors:  Naomi Hino-Fukuyo; Atsuo Kikuchi; Natsuko Arai-Ichinoi; Tetsuya Niihori; Ryo Sato; Tasuku Suzuki; Hiroki Kudo; Yuko Sato; Tojo Nakayama; Yosuke Kakisaka; Yuki Kubota; Tomoko Kobayashi; Ryo Funayama; Keiko Nakayama; Mitsugu Uematsu; Yoko Aoki; Kazuhiro Haginoya; Shigeo Kure
Journal:  Hum Genet       Date:  2015-04-16       Impact factor: 4.132

3.  De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Authors: 
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

Review 4.  Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Authors:  Merel Klaassens; Deborah Morrogh; Elisabeth M Rosser; Fatima Jaffer; Maaike Vreeburg; Levinus A Bok; Tim Segboer; Martine van Belzen; Ros M Quinlivan; Ajith Kumar; Jane A Hurst; Richard H Scott
Journal:  Eur J Hum Genet       Date:  2014-08-13       Impact factor: 4.246

Review 5.  Epilepsy and the new cytogenetics.

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

6.  CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

Authors:  Lena Damaj; Alexis Lupien-Meilleur; Anne Lortie; Émilie Riou; Luis H Ospina; Louise Gagnon; Catherine Vanasse; Elsa Rossignol
Journal:  Eur J Hum Genet       Date:  2015-03-04       Impact factor: 4.246

7.  Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Authors:  Alex R Paciorkowski; Liu Lin Thio; Jill A Rosenfeld; Marzena Gajecka; Christina A Gurnett; Shashikant Kulkarni; Wendy K Chung; Eric D Marsh; Mattia Gentile; James D Reggin; James W Wheless; Sandhya Balasubramanian; Ravinesh Kumar; Susan L Christian; Carla Marini; Renzo Guerrini; Natalia Maltsev; Lisa G Shaffer; William B Dobyns
Journal:  Eur J Hum Genet       Date:  2011-06-22       Impact factor: 4.246

Review 8.  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

Review 9.  WONOEP appraisal: new genetic approaches to study epilepsy.

Authors:  Elsa Rossignol; Katja Kobow; Michele Simonato; Jeffrey A Loeb; Thierry Grisar; Krista L Gilby; Jonathan Vinet; Shilpa D Kadam; Albert J Becker
Journal:  Epilepsia       Date:  2014-06-25       Impact factor: 5.864

10.  Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

Authors:  Alexander G Bassuk; Eileen Geraghty; Shu Wu; Saul A Mullen; Samuel F Berkovic; Ingrid E Scheffer; Heather C Mefford
Journal:  Am J Med Genet A       Date:  2013-05-17       Impact factor: 2.802
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