DOI:10.1097/WCO.0000000000000666 The 2019 seizure disorders section of the Current Opinions in Neurology is tackling several epilepsy hot topics, including advances in inherited and de novo GABAA receptor mutations and mechanistic… Click to show full abstract
DOI:10.1097/WCO.0000000000000666 The 2019 seizure disorders section of the Current Opinions in Neurology is tackling several epilepsy hot topics, including advances in inherited and de novo GABAA receptor mutations and mechanistic target of rapamycin (mTOR)-related somatic variants; assessment of biomarkers such as non-EEG based biosignals for seizure detection, risk factors for SUDEP prediction and high-frequency oscillations (HFOs) for localizing the epileptogenic zone; and the value of therapeutic approaches using cannabinoids, behavioral therapies, and MRI-guided stereotactic laser interstitial thermal therapy, and teratogenicity of antiepileptic drugs. A very large number of epilepsy-related genetic mutations have been discovered over years, most of which affect ion channels and subunits of brain receptors. Among the latter, variants of the GABAA receptor subunits, found in both common and rare forms of epilepsies, are thoroughly reviewed by Maljevic et al. (pp. 183–190). Inherited variants, including those affecting GABRG2 and GABRA1, cause highly variable phenotypes within affected families, ranging from asymptomatic carriers to very severe epilepsies. De-novo variants also typically cause severe developmental delay and epileptic encephalopathies. Regardless of phenotypes, most mutations are responsible for loss-of-function leading to GABAergic disinhibition. Peter Crino (pp. 191–197) has reviewed the recently emerging field of somatic mutations in malformations of cortical developments, including focal cortical dysplasia (FCD) type II and hemimegalencephaly (HME). These noninherited variants typically affect genes encoding regulatory proteins participating to the mTOR signaling cascade in neuroglial progenitor. New somatic mutations have also been observed in FCD type I and nonlesional neocortical epilepsy, opening new avenues in the understanding of these disorders and the development of novel-targeted therapies. Methods and devices for non-EEG–based seizure detection are developing very rapidly, with the objectives to enable more accurate seizure counting and to alert carers of an ongoing seizure. More accurate seizure documentation may help optimizing treatment whereas alerted carers may act to reduce seizure-triggered morbidity and mortality. In their review, Beniczky et al. (pp. 198–204) stress
               
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