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UnknownProgressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of ab...
S-EPMC10235579 | biostudies-literature
UnknownA Role for Neuropeptide S in Alcohol and Cocaine Seeking.
The neuropeptide S (NPS) is the endogenous ligand of the NPS receptor (NPSR). The NPSR is widely expressed in brain regions that process emotional and affective behavior. NPS possesses a unique physio-pharmacological profile, being anxiolytic and promoting arousal at the same time. Intracerebroventr...
S-EPMC9317571 | biostudies-literature
UnknownLong-term outcomes and adaptive behavior in adult patients with Lennox-Gastaut syndrome.

Objective

Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy characterized by difficult-to-control seizures and cognitive dysfunction. Previous studies mainly focused on pediatric populations, and little is known about the long-term cognitive outcome in adult patients with LGS. The o...
S-EPMC11450593 | biostudies-literature
UnknownClinical predictors and concomitant antiseizure medications effects on seizure control in relation to plasma cenobamate concentration: a multicenter retrospective study.

Introduction

Cenobamate (CNB) is a novel antiseizure medication (ASM) approved as an add-on therapy for drug-resistant focal onset seizures. Although its mechanism of action is not fully understood, CNB enhances inhibitory GABAergic transmission and blocks voltage-gated sodium channels. Its ...
S-EPMC12497770 | biostudies-literature
UnknownBrivaracetam use in clinical practice: a Delphi consensus on its role as first add-on therapy in focal epilepsy and beyond.

Background

Antiseizure medications remain the cornerstone of treatment for epilepsy, although a proportion of individuals with the condition will continue to experience seizures despite appropriate therapy. Treatment choices for epilepsy are based on variables related to both the individual ...
S-EPMC11306259 | biostudies-literature
UnknownSustained seizure freedom with adjunctive brivaracetam in patients with focal onset seizures.
The maintenance of seizure control over time is a clinical priority in patients with epilepsy. The aim of this study was to assess the sustained seizure frequency reduction with adjunctive brivaracetam (BRV) in real-world practice. Patients with focal epilepsy prescribed add-on BRV were identified. ...
S-EPMC9311068 | biostudies-literature
UnknownHeterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic epilepsy syndrome clinically characterized by focal seizures with prominent auditory symptoms. ADLTE is genetically heterogeneous, and mutations in LGI1 account for fewer than 50% of affected families. Here, we report the identificati...
S-EPMC4457960 | biostudies-literature
UnknownProgressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endosomal function. We performed whole-exome sequencin...
S-EPMC8059372 | biostudies-literature
UnknownDe novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS) of the enzyme cis-prenyltransferase (cis-PTase), ...
S-EPMC8967098 | biostudies-literature
UnknownIntronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing...
S-EPMC6820779 | biostudies-literature
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