Clinical Genetic Testing in Epilepsy

Epilepsy Currents
Heather C Mefford

Abstract

New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; therefore, it is important to understand the types of tests available and the types of mutations that can be detected. Making a genetic diagnosis improves overall patient care by enhancing prognosis and recurrence risk counseling and informing treatment decisions.

References

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Aug 13, 2013·Nature Genetics·Gemma L CarvillHeather C Mefford
Aug 13, 2013·Nature Genetics·Johannes R LemkeSarah von Spiczak
Aug 13, 2013·Nature·Andrew S AllenMelodie R Winawer
Oct 4, 2013·The New England Journal of Medicine·Yaping YangChristine M Eng
Nov 26, 2013·Annals of Neurology·Johannes R LemkeSarah Weckhuysen
Mar 14, 2014·Neurology·Gemma L CarvillHeather C Mefford
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Sep 30, 2014·American Journal of Human Genetics·UNKNOWN EuroEPINOMICS-RES ConsortiumUNKNOWN Epi4K Consortium
Apr 14, 2015·American Journal of Human Genetics·Gemma L CarvillHeather C Mefford

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Citations

May 4, 2018·Nature Reviews. Disease Primers·Orrin DevinskyPiero Perucca
Sep 1, 2015·Epilepsy Currents·Samuel F Berkovic
Jan 17, 2020·Expert Review of Neurotherapeutics·Marcello ScalaPasquale Striano
Jul 12, 2018·Clinical Genetics·K A MyersD A Dyment
Apr 3, 2020·European Journal of Human Genetics : EJHG·Katherine A BensonGianpiero L Cavalleri
Mar 9, 2021·Frontiers in Pediatrics·Juliann M Savatt, Scott M Myers

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Methods Mentioned

BETA
exome sequencing

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