TY - JOUR
T1 - Clinical Neurogenetics
T2 - Recent Advances in the Genetics of Epilepsy
AU - Coorg, Rohini
AU - Weisenberg, Judith L.Z.
AU - Wong, Michael
PY - 2013/11
Y1 - 2013/11
N2 - Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well as non-genetic causes. As more causative genes are identified, genetic testing is becoming increasingly important in the evaluation and management of epilepsy. This article outlines the clinical approach to epilepsy patients, with emphasis on genetic testing. Specific targeted tests are available for numerous individual genetic causes of epilepsy. Broader screening tests, such as chromosome microarray analysis and whole exome sequencing, have also been developed. As a standardized protocol for genetic testing has not been established, individualized diagnostic approaches to epilepsy patients should be used.
AB - Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well as non-genetic causes. As more causative genes are identified, genetic testing is becoming increasingly important in the evaluation and management of epilepsy. This article outlines the clinical approach to epilepsy patients, with emphasis on genetic testing. Specific targeted tests are available for numerous individual genetic causes of epilepsy. Broader screening tests, such as chromosome microarray analysis and whole exome sequencing, have also been developed. As a standardized protocol for genetic testing has not been established, individualized diagnostic approaches to epilepsy patients should be used.
KW - Epilepsy
KW - Genetics
KW - Seizure
UR - http://www.scopus.com/inward/record.url?scp=84886395036&partnerID=8YFLogxK
U2 - 10.1016/j.ncl.2013.04.003
DO - 10.1016/j.ncl.2013.04.003
M3 - Review article
C2 - 24176415
AN - SCOPUS:84886395036
SN - 0733-8619
VL - 31
SP - 891
EP - 913
JO - Neurologic Clinics
JF - Neurologic Clinics
IS - 4
ER -