Literature DB >> 19536565

Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.

Danielle M Andrade1.   

Abstract

Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes' important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.

Entities:  

Mesh:

Substances:

Year:  2009        PMID: 19536565     DOI: 10.1007/s00439-009-0702-1

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  210 in total

1.  Reelin binds alpha3beta1 integrin and inhibits neuronal migration.

Authors:  L Dulabon; E C Olson; M G Taglienti; S Eisenhuth; B McGrath; C A Walsh; J A Kreidberg; E S Anton
Journal:  Neuron       Date:  2000-07       Impact factor: 17.173

2.  Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.

Authors:  Hua-Jun Feng; Jing-Qiong Kang; Luyan Song; Leanne Dibbens; John Mulley; Robert L Macdonald
Journal:  J Neurosci       Date:  2006-02-01       Impact factor: 6.167

3.  Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Authors:  N Matsumoto; R J Leventer; J A Kuc; S K Mewborn; L L Dudlicek; M B Ramocki; D T Pilz; P L Mills; S Das; M E Ross; D H Ledbetter; W B Dobyns
Journal:  Eur J Hum Genet       Date:  2001-01       Impact factor: 4.246

4.  Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.

Authors:  Salvatore Grosso; Marco Fichera; Ornella Galesi; Daniela Luciano; Lucia Pucci; Francesca Giardini; Rosario Berardi; Paolo Balestri
Journal:  Dev Med Child Neurol       Date:  2008-04-01       Impact factor: 5.449

5.  LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.

Authors:  Wenli Gu; Eylert Brodtkorb; Ortrud K Steinlein
Journal:  Ann Neurol       Date:  2002-09       Impact factor: 10.422

6.  Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study.

Authors:  R Kuzniecky; F Andermann; R Guerrini
Journal:  Lancet       Date:  1993-03-06       Impact factor: 79.321

7.  mTOR cascade activation distinguishes tubers from focal cortical dysplasia.

Authors:  Marianna Baybis; Jia Yu; Allana Lee; Jeff A Golden; Howard Weiner; Guy McKhann; Eleonora Aronica; Peter B Crino
Journal:  Ann Neurol       Date:  2004-10       Impact factor: 10.422

8.  Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Authors:  Tateki Fujiwara; Takashi Sugawara; Emi Mazaki-Miyazaki; Yukitoshi Takahashi; Katsuyuki Fukushima; Masako Watanabe; Keita Hara; Tateki Morikawa; Kazuichi Yagi; Kazuhiro Yamakawa; Yushi Inoue
Journal:  Brain       Date:  2003-03       Impact factor: 13.501

9.  The spectrum of SCN1A-related infantile epileptic encephalopathies.

Authors:  Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
Journal:  Brain       Date:  2007-03       Impact factor: 13.501

10.  Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

Authors:  Paolo Aridon; Carla Marini; Chiara Di Resta; Elisa Brilli; Maurizio De Fusco; Fausta Politi; Elena Parrini; Irene Manfredi; Tiziana Pisano; Dario Pruna; Giulia Curia; Carlo Cianchetti; Massimo Pasqualetti; Andrea Becchetti; Renzo Guerrini; Giorgio Casari
Journal:  Am J Hum Genet       Date:  2006-06-26       Impact factor: 11.025

View more
  15 in total

1.  Cortical dysplasia: a possible substrate for brain tumors.

Authors:  Shiyong Liu; Chunqing Zhang; Haifeng Shu; Didier Wion; Hui Yang
Journal:  Future Oncol       Date:  2012-03       Impact factor: 3.404

2.  TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

Authors:  Antonio Falace; Fabia Filipello; Veronica La Padula; Nicola Vanni; Francesca Madia; Davide De Pietri Tonelli; Fabrizio A de Falco; Pasquale Striano; Franca Dagna Bricarelli; Carlo Minetti; Fabio Benfenati; Anna Fassio; Federico Zara
Journal:  Am J Hum Genet       Date:  2010-08-19       Impact factor: 11.025

3.  Genetics and the brain: many pathways to enlightenment.

Authors:  Michael C O'Donovan; Michael J Owen
Journal:  Hum Genet       Date:  2009-07       Impact factor: 4.132

4.  Brain function and anatomy in juvenile myoclonic epilepsy.

Authors:  Kimford J Meador
Journal:  Epilepsy Curr       Date:  2010-01       Impact factor: 7.500

Review 5.  Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis.

Authors:  Irfan A Qureshi; Mark F Mehler
Journal:  Neurobiol Dis       Date:  2010-02-24       Impact factor: 5.996

6.  Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutant.

Authors:  G D Rosen; N G Azoulay; E G Griffin; A Newbury; L Koganti; N Fujisaki; E Takahashi; P E Grant; D T Truong; R H Fitch; L Lu; R W Williams
Journal:  Cereb Cortex       Date:  2012-03-27       Impact factor: 5.357

7.  Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Authors:  Eyal Reinstein; Sophia Frentz; Tim Morgan; Sixto García-Miñaúr; Richard J Leventer; George McGillivray; Mitchel Pariani; Anthony van der Steen; Michael Pope; Muriel Holder-Espinasse; Richard Scott; Elizabeth M Thompson; Terry Robertson; Brian Coppin; Robert Siegel; Montserrat Bret Zurita; Jose I Rodríguez; Carmen Morales; Yuri Rodrigues; Joaquín Arcas; Anand Saggar; Margaret Horton; Elaine Zackai; John M Graham; David L Rimoin; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2012-10-03       Impact factor: 4.246

8.  Induction of neuro-protective/regenerative genes in stem cells infiltrating post-ischemic brain tissue.

Authors:  Gokhan Yilmaz; J Steven Alexander; Cigdem Erkuran Yilmaz; D Neil Granger
Journal:  Exp Transl Stroke Med       Date:  2010-05-28

9.  The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.

Authors:  Jerzy Wegiel; Izabela Kuchna; Krzysztof Nowicki; Humi Imaki; Jarek Wegiel; Elaine Marchi; Shuang Yong Ma; Abha Chauhan; Ved Chauhan; Teresa Wierzba Bobrowicz; Mony de Leon; Leslie A Saint Louis; Ira L Cohen; Eric London; W Ted Brown; Thomas Wisniewski
Journal:  Acta Neuropathol       Date:  2010-03-03       Impact factor: 17.088

Review 10.  A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.

Authors:  David M Feliciano; Tiffany V Lin; Nathaniel W Hartman; Christopher M Bartley; Cathryn Kubera; Lawrence Hsieh; Carlos Lafourcade; Rachel A O'Keefe; Angelique Bordey
Journal:  Int J Dev Neurosci       Date:  2013-02-26       Impact factor: 2.457

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.