Genetic evaluation and counseling for epilepsy

Abstract

The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of both known and unknown cause. Simultaneously, advances in molecular technology foreshadow additional discoveries in epilepsy etiology, implying a greater role than ever before for genetics in the epilepsy clinic. Genetic testing can be valuable not only for diagnosis but also for guiding treatment and for informing reproductive choices. In this Review, we outline the principles of genetic evaluation and counseling, and describe how to interpret genetic test results for epilepsy in the following five common clinical scenarios: Dravet syndrome, infantile spasms, epilepsy with cortical malformation, epilepsy with mental retardation, and idiopathic epilepsy syndromes. We differentiate clinical situations in which genetic testing is of high and low utility, and predict future areas for the application of genetics in epilepsy practice.

Prevalence, Demographic Profile, and Psychological Aspects of Epilepsy in North-Western India: A Community-Based Observational Study

“…Our observations are consistent with the findings of Pal et al [36]. The familial aggregation of disease may be explained by shared genetics and exposure to similar environmental factors [33].…”

Opportunities and Challenges for Genome Sequencing in the Clinic

“…In terms of clinical utility, under gold-standard care, mutation screening is used in the diagnostic workup of several forms of epilepsy including generalized epilepsies with febrile seizures plus (GEFSþ, screening of SCN1a and SCN1b), severe myoclonic epilepsy (Dravet syndrome, screening of SCN1a, 2a, 3a, 9a, and 1b), infantile spasms (e.g., screening of CDKL5), seizures with cortical malformations (e.g., screening of FLNA), epilepsy with learning disability (screening of various genes and CNVs), and some idiopathic forms of generalized epilepsy (Pal, Pong, & Chung, 2010). However, despite the diversity of seizure-related conditions for which genetic testing is of value, it should be noted that most of these cases are familial and rare (accounting for <1% of cases of epilepsy).…”

Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

“…новорожденных [3]. В последние годы в связи с совершенствованием молекулярных и биохимических методов диагностики показана зна-чимая роль генетических факторов в возникновении болезней с судорожным синдромом в грудном возра-сте [4].…”