Literature DB >> 22618127

Genetics of epilepsy and relevance to current practice.

Roberto Michelucci1, Elena Pasini, Patrizia Riguzzi, Lilia Volpi, Emanuela Dazzo, Carlo Nobile.   

Abstract

Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.

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Year:  2012        PMID: 22618127     DOI: 10.1007/s11910-012-0281-8

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


  106 in total

1.  GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Authors:  P Striano; Y G Weber; M R Toliat; J Schubert; C Leu; R Chaimana; S Baulac; R Guerrero; E LeGuern; A-E Lehesjoki; A Polvi; A Robbiano; J M Serratosa; R Guerrini; P Nürnberg; T Sander; F Zara; H Lerche; C Marini
Journal:  Neurology       Date:  2012-01-25       Impact factor: 9.910

2.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

3.  Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

Authors:  P Striano; G Busolin; L Santulli; E Leonardi; A Coppola; L Vitiello; L Rigon; R Michelucci; S C E Tosatto; S Striano; C Nobile
Journal:  Neurology       Date:  2011-03-29       Impact factor: 9.910

4.  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

5.  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

Review 6.  The autosomal recessively inherited progressive myoclonus epilepsies and their genes.

Authors:  Nivetha Ramachandran; Jean-Marie Girard; Julie Turnbull; Berge A Minassian
Journal:  Epilepsia       Date:  2009-05       Impact factor: 5.864

7.  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

8.  Exploration of the genetic architecture of idiopathic generalized epilepsies.

Authors:  Anne Hempelmann; Kirsten P Taylor; Armin Heils; Susanne Lorenz; Jean-Francois Prud'homme; Rima Nabbout; Olivier Dulac; Gabrielle Rudolf; Federico Zara; Amedeo Bianchi; Robert Robinson; R Mark Gardiner; Athanasios Covanis; Dick Lindhout; Ulrich Stephani; Christian E Elger; Yvonne G Weber; Holger Lerche; Peter Nürnberg; Katherine L Kron; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic; Thomas Sander
Journal:  Epilepsia       Date:  2006-10       Impact factor: 5.864

9.  Telephone-induced seizures: a new type of reflex epilepsy.

Authors:  Roberto Michelucci; Elena Gardella; Gerrit-Jan de Haan; Francesca Bisulli; Anna Zaniboni; Gaetano Cantalupo; Carlo Alberto Tassinari; Paolo Tinuper; Carlo Nobile; Paolo Nichelli; Dorothée G A Kasteleijn-Nolst Trenité
Journal:  Epilepsia       Date:  2004-03       Impact factor: 5.864

10.  A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Authors:  Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar S Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem I El-Shanti
Journal:  Am J Hum Genet       Date:  2008-10-30       Impact factor: 11.025

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  9 in total

Review 1.  Seizures and epilepsy: an overview for neuroscientists.

Authors:  Carl E Stafstrom; Lionel Carmant
Journal:  Cold Spring Harb Perspect Med       Date:  2015-06-01       Impact factor: 6.915

2.  Profile of epilepsy in a regional hospital in Al qassim, saudi arabia.

Authors:  Nermin A Hamdy; Mohammad Jawad Alamgir; El Gamri E Mohammad; Mahmoud H Khedr; Shafat Fazili
Journal:  Int J Health Sci (Qassim)       Date:  2014-07

Review 3.  Subjective distinguishability of seizure and non-seizure Déjà Vu: A case report, brief literature review, and research prospects.

Authors:  Anne M Cleary; Joseph Neisser; Timothy McMahan; Thomas D Parsons; Abdulrhaman Alwaki; Noah Okada; Armin Vosoughi; Ammar Kheder; Daniel L Drane; Nigel P Pedersen
Journal:  Epilepsy Behav       Date:  2021-11-01       Impact factor: 2.937

Review 4.  The molecular biology of genetic-based epilepsies.

Authors:  Hao Deng; Xiaofei Xiu; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

5.  Generalized epilepsy in a patient with myotonic dystrophy type 2.

Authors:  C Cagnetti; L Buratti; N Foschi; S Balestrini; L Provinciali
Journal:  Neurol Sci       Date:  2013-11-26       Impact factor: 3.307

6.  Evaluation of magnetic resonance imaging-negative drug-resistant epilepsy.

Authors:  Aashit K Shah; Sandeep Mittal
Journal:  Ann Indian Acad Neurol       Date:  2014-03       Impact factor: 1.383

Review 7.  A bouquet of DNA structures: Emerging diversity.

Authors:  Mahima Kaushik; Shikha Kaushik; Kapil Roy; Anju Singh; Swati Mahendru; Mohan Kumar; Swati Chaudhary; Saami Ahmed; Shrikant Kukreti
Journal:  Biochem Biophys Rep       Date:  2016-01-28

8.  Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.

Authors:  Roman Praschberger; Bettina Balint; Niccolo E Mencacci; Joshua Hersheson; Ignacio Rubio-Agusti; Dimitri M Kullmann; Conceição Bettencourt; Kailash Bhatia; Henry Houlden
Journal:  Mov Disord Clin Pract       Date:  2015-06-17

9.  Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?

Authors:  Jason M Kehrl; Kinshuk Sahaya; Hans M Dalton; Raelene A Charbeneau; Kevin T Kohut; Kristen Gilbert; Madeline C Pelz; Jack Parent; Richard R Neubig
Journal:  Mamm Genome       Date:  2014-04-05       Impact factor: 2.957

  9 in total

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