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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Theory of Mind and social competence in children and adolescents with genetic generalised epilepsy (GGE): relationships to epilepsy severity and anti-epileptic drugs

Genetic generalised epilepsy (GGE) is a common childhood-onset epilepsy, which is associated with widespread social difficulties: reduced social competence, poor social skills and social communication deficits [1]. Social difficulties in GGE tend to persist, leading to social isolation and social stigma as adults [2]. In clinical practice, psychosocial problems are often undetected and untreated, partly because there is limited understanding of what underpins social difficulties in epilepsy, which is necessary for developing screening tools and empirically-validated treatments [3].

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Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis

Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway [1]. TSC produces hamartomatous lesions in the brain, kidney, skin, and other organs of the body. Epilepsy is observed in approximately 90% of patients with TSC, and approximately half of the patients have experienced infantile spasms (IS) and the majority are pharmacoresistant [2]. In children with TSC, uncontrolled ...

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Comparison of lamotrigine and oxcarbazepine monotherapy for pediatric focal epilepsy: an observational study

Evidence-based medicine is an approach used for characterizing antiepileptic drugs for optimized decision-making since both traditional and new antiepileptic drugs have been introduced to the field of focal epilepsy. Evidence-based medicine guides treatment in certain specific populations, but neurologists should not overlook clinicians’ personal experience and patient-related factors, including age, comorbidity, adverse effects and economic state, when deciding how to treat patients [1].

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Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

West syndrome (WS) is one of the well-known types of early onset epileptic encephalopathy, which is characterized by infantile onset of recurrent seizures and prominent interictal epileptiform discharges with frequent neurological comorbidity. A variety of mutations and copy number variations (CNVs) have been associated with this epileptic disorder. Among these, germline mutations in voltage-gated sodium channels (VGSCs) have been implicated in various neurological disorders. In particular, the chromosome 2q24.3 region has been drawing increasing attention since it harbors three VGSC ...

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