Objective Seizures may occur in close temporal association with a stroke or after a variable
interval. Moreover, epilepsy is often encountered in patients with leukoaraiosis. Although …

The ionic currents that underlie the mechanisms of epileptogenesis have been systematically
characterised in different experimental preparations. The recent elucidation of the …

Objective: To evaluate the efficacy and safety of perampanel 2, 4, and 8 mg/day added to 1–3
concomitant antiepileptic drugs (AEDs) in patients with uncontrolled partial-onset seizures. …

Purpose To report the identification of the T1174S SCN1A (Na V 1.1) mutation in a three‐generation
family with both epileptic and familial hemiplegic migraine ( FHM ) phenotypes and …

We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

… In brief, HMW genomic DNA was restriction enzyme digested, ligated, PCR amplified,
purified, labeled, fragmented, and hybridized to the arrays according to the manufacturer’s …

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …

Predictors of chronic lymphocytic leukaemia (CLL) transformation to Richter syndrome (RS)
are not established and were investigated in 185 consecutive CLL cases. Actuarial …

Role of interim-PET (I-PET) in diffuse large B-cell Lymphoma (DLBCL) is controversial. To
determine predictive value of I-PET on progression-free survival (PFS), we enrolled 88 first-…

Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …