Literature DB >> 26900380

Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures.

Jennifer A Kearney.   

Abstract

Entities:  

Year:  2016        PMID: 26900380      PMCID: PMC4749118          DOI: 10.5698/1535-7597-16.1.43

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  11 in total

1.  Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Authors:  Sarah E Heron; Katherine R Smith; Melanie Bahlo; Lino Nobili; Esther Kahana; Laura Licchetta; Karen L Oliver; Aziz Mazarib; Zaid Afawi; Amos Korczyn; Giuseppe Plazzi; Steven Petrou; Samuel F Berkovic; Ingrid E Scheffer; Leanne M Dibbens
Journal:  Nat Genet       Date:  2012-10-21       Impact factor: 38.330

2.  SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Authors:  Katherine B Howell; Jacinta M McMahon; Gemma L Carvill; Dimira Tambunan; Mark T Mackay; Victoria Rodriguez-Casero; Richard Webster; Damian Clark; Jeremy L Freeman; Sophie Calvert; Heather E Olson; Simone Mandelstam; Annapurna Poduri; Heather C Mefford; A Simon Harvey; Ingrid E Scheffer
Journal:  Neurology       Date:  2015-08-19       Impact factor: 9.910

3.  Hyperexcitability and epilepsy associated with disruption of the mouse neuronal-specific K-Cl cotransporter gene.

Authors:  Nam-Sik Woo; Jianming Lu; Roger England; Robert McClellan; Samuel Dufour; David B Mount; Ariel Y Deutch; David M Lovinger; Eric Delpire
Journal:  Hippocampus       Date:  2002       Impact factor: 3.899

4.  Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

Authors:  Emily R Freilich; Julie M Jones; William D Gaillard; Joan A Conry; Tammy N Tsuchida; Christine Reyes; Sulayman Dib-Hajj; Stephen G Waxman; Miriam H Meisler; Phillip L Pearl
Journal:  Arch Neurol       Date:  2011-05

5.  Migrating partial seizures in infancy: a malignant disorder with developmental arrest.

Authors:  G Coppola; P Plouin; C Chiron; O Robain; O Dulac
Journal:  Epilepsia       Date:  1995-10       Impact factor: 5.864

6.  Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Authors:  Chihiro Ohba; Mitsuhiro Kato; Satoru Takahashi; Tally Lerman-Sagie; Dorit Lev; Hiroshi Terashima; Masaya Kubota; Hisashi Kawawaki; Mayumi Matsufuji; Yasuko Kojima; Akihiko Tateno; Hadassa Goldberg-Stern; Rachel Straussberg; Dafna Marom; Esther Leshinsky-Silver; Mitsuko Nakashima; Kiyomi Nishiyama; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Epilepsia       Date:  2014-06-02       Impact factor: 5.864

7.  De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Authors:  Giulia Barcia; Matthew R Fleming; Aline Deligniere; Valeswara-Rao Gazula; Maile R Brown; Maeva Langouet; Haijun Chen; Jack Kronengold; Avinash Abhyankar; Roberta Cilio; Patrick Nitschke; Anna Kaminska; Nathalie Boddaert; Jean-Laurent Casanova; Isabelle Desguerre; Arnold Munnich; Olivier Dulac; Leonard K Kaczmarek; Laurence Colleaux; Rima Nabbout
Journal:  Nat Genet       Date:  2012-10-21       Impact factor: 38.330

8.  SLC25A22 is a novel gene for migrating partial seizures in infancy.

Authors:  Annapurna Poduri; Erin L Heinzen; Vida Chitsazzadeh; Francesco Massimo Lasorsa; P Christina Elhosary; Christopher M LaCoursiere; Emilie Martin; Christopher J Yuskaitis; Robert Sean Hill; Kutay Deniz Atabay; Brenda Barry; Jennifer N Partlow; Fahad A Bashiri; Radwan M Zeidan; Salah A Elmalik; Mohammad M U Kabiraj; Sanjeev Kothare; Tommy Stödberg; Amy McTague; Manju A Kurian; Ingrid E Scheffer; A James Barkovich; Ferdinando Palmieri; Mustafa A Salih; Christopher A Walsh
Journal:  Ann Neurol       Date:  2013-12       Impact factor: 10.422

9.  A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

Authors:  Martin Puskarjov; Patricia Seja; Sarah E Heron; Tristiana C Williams; Faraz Ahmad; Xenia Iona; Karen L Oliver; Bronwyn E Grinton; Laszlo Vutskits; Ingrid E Scheffer; Steven Petrou; Peter Blaesse; Leanne M Dibbens; Samuel F Berkovic; Kai Kaila
Journal:  EMBO Rep       Date:  2014-03-24       Impact factor: 8.807

10.  Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

Authors:  Tommy Stödberg; Amy McTague; Arnaud J Ruiz; Hiromi Hirata; Juan Zhen; Philip Long; Irene Farabella; Esther Meyer; Atsuo Kawahara; Grace Vassallo; Stavros M Stivaros; Magnus K Bjursell; Henrik Stranneheim; Stephanie Tigerschiöld; Bengt Persson; Iftikhar Bangash; Krishna Das; Deborah Hughes; Nicole Lesko; Joakim Lundeberg; Rod C Scott; Annapurna Poduri; Ingrid E Scheffer; Holly Smith; Paul Gissen; Stephanie Schorge; Maarten E A Reith; Maya Topf; Dimitri M Kullmann; Robert J Harvey; Anna Wedell; Manju A Kurian
Journal:  Nat Commun       Date:  2015-09-03       Impact factor: 14.919

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