Literature DB >> 23468209

Recent advances in the molecular genetics of epilepsy.

Michael S Hildebrand1, Hans-Henrik M Dahl, John Anthony Damiano, Richard J H Smith, Ingrid E Scheffer, Samuel F Berkovic.   

Abstract

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been a steady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent of new screening technologies promises to exponentially expand both knowledge and clinical utility. To maximise the value of this new genetic insight we need to rapidly extrapolate genetic findings to inform patients of their diagnosis, prognosis, recurrence risk and the clinical management options available for their specific genetic condition. Comprehensive, highly specific and sensitive genetic test results improve the management of patients by neurologists and clinical geneticists. Here we discuss the latest developments in clinical genetic testing for epilepsy and describe new molecular genetics platforms that will transform both genetic screening and novel gene discovery.

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Mesh:

Year:  2013        PMID: 23468209     DOI: 10.1136/jmedgenet-2012-101448

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  52 in total

Review 1.  Genetic Testing in Pediatric Epilepsy.

Authors:  Tristan T Sands; Hyunmi Choi
Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

Review 2.  Epileptic encephalopathies: new genes and new pathways.

Authors:  Sahar Esmaeeli Nieh; Elliott H Sherr
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

3.  Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Authors:  Ram S Puranam; Xiao Ping He; Lijun Yao; Tri Le; Wonjo Jang; Catherine W Rehder; Darrell V Lewis; James O McNamara
Journal:  J Neurosci       Date:  2015-06-10       Impact factor: 6.167

4.  Genetic testing preferences in families containing multiple individuals with epilepsy.

Authors:  Janice O Okeke; Virginia E Tangel; Shawn T Sorge; Dale C Hesdorffer; Melodie R Winawer; Jeff Goldsmith; Jo C Phelan; Wendy K Chung; Sara Shostak; Ruth Ottman
Journal:  Epilepsia       Date:  2014-09-29       Impact factor: 5.864

5.  Deep Blue "Seq": Fishing for Epilepsy Genes.

Authors:  Zane Lybrand; Jenny Hsieh
Journal:  Epilepsy Curr       Date:  2016 Mar-Apr       Impact factor: 7.500

6.  Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.

Authors:  Kyoko Hirabayashi; Daniela Tiaki Uehara; Hidetoshi Abe; Atsushi Ishii; Keiji Moriyama; Shinichi Hirose; Johji Inazawa
Journal:  J Hum Genet       Date:  2019-08-30       Impact factor: 3.172

Review 7.  Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Authors:  Xing-Xing Xu; Jian-Hong Luo
Journal:  Neurosci Bull       Date:  2017-11-10       Impact factor: 5.203

8.  Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Authors: 
Journal:  Am J Hum Genet       Date:  2019-07-18       Impact factor: 11.025

9.  Mother and daughter with adolescent-onset severe frontal lobe dysfunction and epilepsy.

Authors:  Giordani Rodrigues Dos Passos; Alonso Cuadrado Fernández; Adriana Machado Vasques; William Alves Martins; André Palmini
Journal:  Dement Neuropsychol       Date:  2016 Jul-Sep

Review 10.  Epilepsy: old syndromes, new genes.

Authors:  Sarah Weckhuysen; Christian M Korff
Journal:  Curr Neurol Neurosci Rep       Date:  2014-06       Impact factor: 5.081

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