Literature DB >> 22290576

Epilepsy. Genetics of early-onset epilepsy with encephalopathy.

Rima Nabbout1, Olivier Dulac.   

Abstract

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22290576     DOI： 10.1038/nrneurol.2012.12

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


  10 in total

1.  KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Authors:  Sarah Weckhuysen; Simone Mandelstam; Arvid Suls; Dominique Audenaert; Tine Deconinck; Lieve R F Claes; Liesbet Deprez; Katrien Smets; Dimitrina Hristova; Iglika Yordanova; Albena Jordanova; Berten Ceulemans; An Jansen; Danièle Hasaerts; Filip Roelens; Lieven Lagae; Simone Yendle; Thorsten Stanley; Sarah E Heron; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Peter de Jonghe
Journal:  Ann Neurol       Date:  2012-01       Impact factor: 10.422

2.  Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.

Authors:  Carla Marini; Davide Mei; J Helen Cross; Renzo Guerrini
Journal:  Epilepsia       Date:  2006-10       Impact factor: 5.864

3.  Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+.

Authors:  Ingrid E Scheffer
Journal:  Neurology       Date:  2011-01-19       Impact factor: 9.910

4.  Rare copy number variants are an important cause of epileptic encephalopathies.

Authors:  Heather C Mefford; Simone C Yendle; Cynthia Hsu; Joseph Cook; Eileen Geraghty; Jacinta M McMahon; Orvar Eeg-Olofsson; Lynette G Sadleir; Deepak Gill; Bruria Ben-Zeev; Tally Lerman-Sagie; Mark Mackay; Jeremy L Freeman; Eva Andermann; James T Pelakanos; Ian Andrews; Geoffrey Wallace; Evan E Eichler; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Ann Neurol       Date:  2011-12       Impact factor: 10.422

5.  Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Authors:  Mathieu Milh; Nathalie Villeneuve; Mondher Chouchane; Anna Kaminska; Cécile Laroche; Marie Anne Barthez; Cyril Gitiaux; Céline Bartoli; Ana Borges-Correia; Pierre Cacciagli; Cécile Mignon-Ravix; Hélène Cuberos; Brigitte Chabrol; Laurent Villard
Journal:  Epilepsia       Date:  2011-07-19       Impact factor: 5.864

6.  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

7.  De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Authors:  Hirotomo Saitsu; Mitsuhiro Kato; Takeshi Mizuguchi; Keisuke Hamada; Hitoshi Osaka; Jun Tohyama; Katsuhisa Uruno; Satoko Kumada; Kiyomi Nishiyama; Akira Nishimura; Ippei Okada; Yukiko Yoshimura; Syu-ichi Hirai; Tatsuro Kumada; Kiyoshi Hayasaka; Atsuo Fukuda; Kazuhiro Ogata; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2008-05-11       Impact factor: 38.330

Review 8.  Effects of oxytocin on GABA signalling in the foetal brain during delivery.

Authors:  Rustem Khazipov; Roman Tyzio; Yehezkel Ben-Ari
Journal:  Prog Brain Res       Date:  2008       Impact factor: 2.453

9.  Transient brain magnetic resonance imaging hyperintensity in basal ganglia and brain stem of epileptic infants treated with vigabatrin.

Authors:  Mathieu Milh; Nathalie Villeneuve; Fréderique Chapon; Sandrine Pineau; Sylvie Lamoureux; Marie-Odile Livet; Céline Bartoli; Catherine Hugonenq; Josette Mancini; Brigitte Chabrol; Nadine Girard
Journal:  J Child Neurol       Date:  2009-03       Impact factor: 1.987

10.  A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

Authors:  R Borgatti; C Zucca; A Cavallini; M Ferrario; C Panzeri; P Castaldo; M V Soldovieri; C Baschirotto; N Bresolin; B Dalla Bernardina; M Taglialatela; M T Bassi
Journal:  Neurology       Date:  2004-07-13       Impact factor: 9.910
  10 in total
  6 in total

1.  Profile of neonatal epilepsies: Characteristics of a prospective US cohort.

Authors:  Renée A Shellhaas; Courtney J Wusthoff; Tammy N Tsuchida; Hannah C Glass; Catherine J Chu; Shavonne L Massey; Janet S Soul; Natrujee Wiwattanadittakun; Nicholas S Abend; Maria Roberta Cilio
Journal:  Neurology       Date:  2017-07-21       Impact factor: 9.910

2.  Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.

Authors:  I-Ting Judy Wang; Megan Allen; Darren Goffin; Xinjian Zhu; Andrew H Fairless; Edward S Brodkin; Steve J Siegel; Eric D Marsh; Julie A Blendy; Zhaolan Zhou
Journal:  Proc Natl Acad Sci U S A       Date:  2012-12-10       Impact factor: 11.205

Review 3.  Treatment of epileptic encephalopathies.

Authors:  Amy McTague; J Helen Cross
Journal:  CNS Drugs       Date:  2013-03       Impact factor: 5.749

4.  KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Authors:  Adam L Numis; Marco Angriman; Joseph E Sullivan; Ann J Lewis; Pasquale Striano; Rima Nabbout; Maria R Cilio
Journal:  Neurology       Date:  2013-12-26       Impact factor: 9.910

5.  Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

Authors:  Francesco Miceli; Maria Virginia Soldovieri; Paolo Ambrosino; Vincenzo Barrese; Michele Migliore; Maria Roberta Cilio; Maurizio Taglialatela
Journal:  Proc Natl Acad Sci U S A       Date:  2013-02-25       Impact factor: 11.205

6.  A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

Authors:  Isabelle Thiffault; David J Speca; Daniel C Austin; Melanie M Cobb; Kenneth S Eum; Nicole P Safina; Lauren Grote; Emily G Farrow; Neil Miller; Sarah Soden; Stephen F Kingsmore; James S Trimmer; Carol J Saunders; Jon T Sack
Journal:  J Gen Physiol       Date:  2015-11       Impact factor: 4.086
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.