BDNF Val66Met Polymorphism is not related with Temporal Lobe Epilepsy caused by Hippocampal Sclerosis in Brazilian Population

Some variants of the brain derived neurotrophic factors (BDNF) gene, namely the Val66Met (rs6265), may contribute the risk for epilepsy development. We aimed to investigate if this polymorphism was associated with the risk for epilepsy development in TLE-HS and its correlation with epilepsy-related factors and the presence of psychiatric disorders

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Association between HLA alleles and lamotrigine-induced cutaneous adverse drug reactions in Asian populations: A meta-analysis

Aromatic antiepileptic drugs (AEDs), including carbamazepine (CBZ), oxcarbazepine (OXC), lamotrigine (LTG), and phenytoin (PHT), are among the most common causes of cutaneous adverse drug reactions (cADRs) because of their similar structure. The mortality rate of Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN) can be as high as 10% and 40%, respectively[1], and aromatic AEDs are among the most common causes of severe cutaneous reactions[2]. cADRs are categorized into bullous and non-bullous skin lesions by pathogenesis [3].

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Praxis-induced myoclonia: from the neurophysiologist to the patient perspective

Reflex seizures refer to epileptic seizures triggered immediately or within a short delay by specific motor, sensory, or cognitive stimuli [1], [2]. Praxis induction (PI), one of the well-recognized reflex epileptic traits, is defined as the precipitation of seizures or epileptiform discharges (ED) by complex cognition-guided tasks often involving visuomotor coordination and decision-making, such as playing chess, cards, or other games; calculation; manipulation; drawing; and writing [3]. PI is strongly related to genetic generalized epilepsies, particularly juvenile myoclonic epilepsy (JME).

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Valproate Free Serum Concentrations: More Complex Than Simple Formulas

We read with interest the recent manuscript by Nasreddine et al [1] reporting total and free valproate concentrations from a randomized, double-blind, parallel group, multicenter, concentration-response design clinical trial that compared the safety and efficacy of two concentration ranges of divalproex. From the 265 adult and pediatric subjects enrolled in that trial, 902 synchronous values for total and free valproate concentration were obtained from 228 subjects. These data provided the basis for Nasreddine et al to perform multivariable analysis, which ...

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Electroclinical features of seizures associated with autoimmune encephalitis

Seizures are commonly seen in autoimmune encephalitis [1], a heterogeneous group of conditions associated with neural autoantibodies that frequently targets the cell surface and results in channelopathies, hyperexcitability and potential epileptogenicity [2,3]. A high prevalence of neural autoantibodies has been noted in focal epilepsies, with or without classic features of encephalitis ([4–6], [7]). These advances are noteworthy given targeted immunotherapeutic implications [8] and have been reflected in the most recent ILAE classification, with “immune etiology” listed alongside other classical epilepsy ...

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MODULATION OF EPILEPTIFORM EEG DISCHARGES IN PATIENTS WITH JME

Juvenile myoclonic epilepsy (JME) is the most common age related idiopathic generalized epilepsy corresponding to 5-11% of all epilepsies [1]. The myoclonic jerks of the arms, which occur especially after awakening, are the hallmark of this syndrome. Generalized tonic–clonic seizures (GTCS) occur in most patients, and one third of individuals also have absences. Patients frequently come to medical attention only after a generalized convulsion, and the history of earlier myoclonic jerks is often obtained retrospectively.

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Improving compliance in adults with epilepsy on a modified Atkins diet: A randomized trial

The modified Atkins diet (MAD) has been effectively used in children and adults with drug-resistant epilepsy (DRE) for almost two decades [1–7], however long-term compliance remains a major challenge to successful implementation [8,9]. KetoCal® is a ready-to-drink 4:1 ratio (fat: carbohydrates and protein in grams) nutritionally complete liquid formula that can be used as a meal substitute or supplement. A 2011 prospective study of 30 children with intractable epilepsy treated with MAD in combination with daily KetoCal® (powder mixed with ...

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A case of De Novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome)

We report an unusual seizure phenotype in a girl with a de novo NAA10 pathogenic variant. X-linked NAA10 variants have been previously reported with syndromic, as well as non-syndromic intellectual disability, microcephaly, cardiac abnormalities and dysmorphisms. Defects in NAA10 have been delineated to cause Ogden syndrome, also known as n-terminal acetyl transferase deficiency (NATD). Ogden syndrome is an extremely rare X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, neonatal hypotonia progressing to hypertonia ...

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