Epilepsy genetics: current knowledge, applications, and future directions

KA Myers, DL Johnstone, DA Dyment - Clinical genetics, 2019 - Wiley Online Library
The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …

The challenges of treating epilepsy with 25 antiepileptic drugs

L Santulli, A Coppola, S Balestrini, S Striano - Pharmacological research, 2016 - Elsevier
Nowadays a substantial armamentarium of antiepileptic drugs (AEDs) is available, including
drugs with different mechanisms of action, pharmacokinetics, efficacy and tolerability; …

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

DE Crompton, IE Scheffer, I Taylor, MJ Cook… - Brain, 2010 - academic.oup.com
Temporal lobe epilepsy is the commonest partial epilepsy of adulthood. Although generally
perceived as an acquired disorder, several forms of familial temporal lobe epilepsy, with …

Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture

RV Harris, KL Oliver, P Perucca, P Striano… - Annals of …, 2023 - Wiley Online Library
Objective Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy
syndrome; its molecular genetic basis is unknown. Clinical descriptions of FMTLE vary …

[BOOK][B] Atlas of EEG, seizure semiology, and management

KE Misulis, HH Sonmezturk, B Abou-Khalil, KC Ess - 2022 - books.google.com
Atlas of EEG, Seizure Semiology, and Management is a comprehensive yet concise
textbook with a focus on practical use of EEG and clinical neurology in the diagnosis and …

[HTML][HTML] The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

R Michelucci, P Pulitano, C Di Bonaventura, S Binelli… - Epilepsy & Behavior, 2017 - Elsevier
Objective To describe the clinical phenotype of 7 families with Autosomal Dominant Lateral
Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data …

Recognition of interictal and ictal discharges on EEG. Focal vs generalized epilepsy

R Andrade-Machado, VB Cuartas, IK Muhammad - Epilepsy & Behavior, 2021 - Elsevier
Introduction The differentiation between focal and generalized epilepsies based on clinical
and electroencephalographic features is difficult and sometimes confusing. Objective To …

Deja-vu in temporal lobe epilepsy: metabolic pattern of cortical involvement in patients with normal brain MRI

E Guedj, S Aubert, A McGonigal, O Mundler… - Neuropsychologia, 2010 - Elsevier
To contribute to the identification of brain regions involved in déjà-vu, we studied the
metabolic pattern of cortical involvement in patients with seizures of temporal lobe origin …

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy

P Striano, E Serioli, L Santulli, I Manna, A Labate… - …, 2015 - Wiley Online Library
Mutations in the DEPDC 5 (DEP domain–containing protein 5) gene are a major cause of
familial focal epilepsy with variable foci (FFEVF) and are predicted to account for 12–37% of …

Familial mesial temporal lobe epilepsy and the borderland of déjà vu

P Perucca, DE Crompton, ST Bellows… - Annals of …, 2017 - Wiley Online Library
Objective The cause of mesial temporal lobe epilepsy (MTLE) is often unknown. We
ascertained to what extent newly diagnosed nonlesional MTLE actually represents familial …