Eyelid Myoclonic Status Epilepticus: A Rare Phenotype in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Associated with ASAH1 Gene Mutation

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhood to adolescence [1,2]. In addition to myoclonic seizures, absence, atonic, and rare generalized tonic-clonic seizures have been described [1,2].

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INTRAVENOUS LACOSAMIDE IN SEIZURE EMERGENCIES: OBSERVATIONS FROM A HOSPITALIZED IN-PATIENT ADULT POPULATION

Intravenous (IV) administration of antiepileptic drugs is useful in patients who are unable to take oral medication, and in emergency situations such as seizure clusters (SC), status epilepticus (SE), or when rapid introduction of a new agent is necessary because seizures are uncontrolled on baseline therapy. Lacosamide (LCM), a new anti-epileptic drug with a mechanism of action utilizing the slow inactivation of sodium channels [1], is also available in an IV formulation. Several studies have showed the efficacy of IV ...

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Parents’ emotional status, ADHD symptoms and sleep problems in children with epilepsy

We read with great interest the article by Ekinci and colleagues published recently in this Journal [1]. The authors performed a cross-sectional study on the relationship between sleep problems and quality of life, attention deficit hyperactivity disorder (ADHD) and parents’ emotional status in children with epilepsy. They found that parent-rated T-DSM-IV-S total scores, STAI trait and Beck scores were positively correlated with higher Children’s Sleep Habits Questionnaire (CSHQ) total scores. In addition, ADHD appears to be the strongest predictor of ...

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Stopping epilepsy treatment in seizure remission: good or bad or both?

The ideal objective of treating a person with epilepsy is of course to induce remission by usage of antiepileptic drugs (AEDs) and ultimately stop the antiepileptic drugs AEDs without causing seizure recurrence [1]. Nearly 70% of patients with new-onset epilepsy eventually enter prolonged terminal seizure remission during treatment with AEDs [2,3]. The continued use of AEDs in children and adults may be associated with adverse effects in a substantial fraction of the exposed population, including behavioural and cognitive and other ...

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