Literature DB >> 24740805

Epilepsy: old syndromes, new genes.

Sarah Weckhuysen1, Christian M Korff.   

Abstract

Next-generation sequencing technologies have tremendously increased the speed of gene discovery in monogenic epilepsies, enabling us to identify a genetic cause in an increasing proportion of patients, and to better understand the underlying pathophysiology of their disease. The rapid speed with which new genes are being described lately, confronts clinicians with the difficult task of keeping up to date with the continuous supply of new publications. This article aims to discuss some of the genes that were recently discovered in monogenic familial epilepsy syndromes or epileptic encephalopathies for which an underlying cause remained unknown for a long time.

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Year:  2014        PMID: 24740805     DOI: 10.1007/s11910-014-0447-7

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN: 1528-4042            Impact factor:   5.081


  71 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.  A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Authors:  T Sugawara; Y Tsurubuchi; K L Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa
Journal:  Proc Natl Acad Sci U S A       Date:  2001-05-22       Impact factor: 11.205

3.  Sodium-channel defects in benign familial neonatal-infantile seizures.

Authors:  Sarah E Heron; Kathryn M Crossland; Eva Andermann; Hilary A Phillips; Allison J Hall; Andrew Bleasel; Michael Shevell; Suha Mercho; Marie-Helene Seni; Marie-Christine Guiot; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Lancet       Date:  2002-09-14       Impact factor: 79.321

4.  SCN1A testing for epilepsy: application in clinical practice.

Authors:  Shinichi Hirose; Ingrid E Scheffer; Carla Marini; Peter De Jonghe; Eva Andermann; Alica M Goldman; Marcelo Kauffman; Nigel C K Tan; Daniel H Lowenstein; Sanjay M Sisodiya; Ruth Ottman; Samuel F Berkovic
Journal:  Epilepsia       Date:  2013-04-15       Impact factor: 5.864

5.  Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

Authors:  Xiuyu Shi; Sawa Yasumoto; Eiji Nakagawa; Tatsuya Fukasawa; Satoshi Uchiya; Shinichi Hirose
Journal:  Brain Dev       Date:  2009-09-23       Impact factor: 1.961

6.  Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Authors:  Mathieu Milh; Antonio Falace; Nathalie Villeneuve; Nicola Vanni; Pierre Cacciagli; Stefania Assereto; Rima Nabbout; Fabio Benfenati; Federico Zara; Brigitte Chabrol; Laurent Villard; Anna Fassio
Journal:  Hum Mutat       Date:  2013-04-12       Impact factor: 4.878

7.  Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Authors:  R H Wallace; D W Wang; R Singh; I E Scheffer; A L George; H A Phillips; K Saar; A Reis; E W Johnson; G R Sutherland; S F Berkovic; J C Mulley
Journal:  Nat Genet       Date:  1998-08       Impact factor: 38.330

8.  Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Authors:  Sarah Weckhuysen; Vanja Ivanovic; Rik Hendrickx; Rudy Van Coster; Helle Hjalgrim; Rikke S Møller; Sabine Grønborg; An-Sofie Schoonjans; Berten Ceulemans; Sinead B Heavin; Christin Eltze; Rita Horvath; Gianluca Casara; Tiziana Pisano; Lucio Giordano; Kevin Rostasy; Edda Haberlandt; Beate Albrecht; Andrea Bevot; Ira Benkel; Steffan Syrbe; Beth Sheidley; Renzo Guerrini; Annapurna Poduri; Johannes R Lemke; Simone Mandelstam; Ingrid Scheffer; Marco Angriman; Pasquale Striano; Carla Marini; Arvid Suls; Peter De Jonghe
Journal:  Neurology       Date:  2013-10-09       Impact factor: 9.910

9.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

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  3 in total

1.  The "urban myth" of the association between neurological disorders and vaccinations.

Authors:  R Gasparini; D Panatto; P L Lai; D Amicizia
Journal:  J Prev Med Hyg       Date:  2015-06-10

2.  Audit of practice in sudden unexpected death in epilepsy (SUDEP) post mortems and neuropathological findings.

Authors:  Maria Thom; Zuzanna Michalak; Gabriella Wright; Timothy Dawson; David Hilton; Abhijit Joshi; Beate Diehl; Matthias Koepp; Samden Lhatoo; Josemir W Sander; Sanjay M Sisodiya
Journal:  Neuropathol Appl Neurobiol       Date:  2015-09-25       Impact factor: 8.090

3.  Overnight Video-Polysomnographic Studies in Children with Intractable Epileptic Encephalopathies.

Authors:  Natasa Nenadic-Baranasic; Romana Gjergja-Juraski; Ivan Lehman; Mirjana Turkalj; Boro Nogalo; Nina Barisic
Journal:  Med Sci Monit       Date:  2018-08-04
  3 in total

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