PURPOSE Intractable epilepsy is a brain disorder characterized by recurrent seizures and intracellular alpha-synuclein (αS) deposits; however, the neurobiological basis of this protein accumulation is still poorly understood. This is the first study aiming to assess whether the increase of αS concentrations in the serum and CSF (cerebrospinal fluid) could serve as a marker for αS deposition in ...

A 42-year-old woman presented with a history of intractable eye-closure-sensitive myoclonic and grand mal seizures since age 22, resulting in falls and fractures. She also had five episodes of status epilepticus. She denied visual phenomena, eyelid myoclonus, and absence seizures. She had normal cognitive function, but proximal muscle weakness of all extremities. Her EEG revealed eye-closure-in...

A 52-year-old right handed man presented with medically intractable partial seizures consisting of numbness on the left upper back spreading to the left upper as well as lower limbs. Head computed tomography and magnetic resonance imaging showed a round calcified lesion in the depth of the superior ramus of the right sylvian fissure. Ictal electrocorticographic recording with chronically implan...

One challenge in modern medicine is to control epilepsies that do not respond to currently available medications. Since seizures consist of coordinated and high-frequency neural activity, our goal was to disrupt neurotransmission with a synaptic transmission mutant and evaluate its ability to suppress seizures. We found that the mutant shibire, encoding dynamin, suppresses seizure-like activity...

Psychological interventions aimed at seizure management are described with a 14-year-old boy with a learning disability and intractable epilepsy. Baseline records suggested that a majority of tonic seizures and 'drop attacks' were associated with going off to sleep and by environmental 'startles'. Psychological formulation implicated sudden changes in arousal levels as an underlying mechanism o...

Although highly effective for the treatment of intractable epilepsy, the ketogenic diet is not always included in the treatment option hierarchy presented to families, in part due to perceptions that children will find the high-fat/low-carbohydrate regimen unpalatable. This study assessed if children with seizures exhibit food preferences compatible with the diet, as well as if caregivers were ...

Ketogenic diet has been shown to be efficacious in some epileptic encephalopathies but rarely reported as being useful in children with Ohtahara syndrome. This could possibly be attributed to the rarity of the disease and associated short survival period. We report on a 5-year-old child with Ohtahara syndrome, whose seizures failed to improve with all known medications, continued to show persis...

We review our experience with high-dose intravenous levetiracetam (IV-LEV) for acute seizure exacerbations in nine children with medically intractable epilepsy. All children had acute repetitive seizures-while on chronic antiepileptic drugs-that either led to hospitalization (eight) or occurred during hospitalization (one), and received doses of IV-LEV of 150 mg/kg/day or greater, with a mean d...

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited mutations, with median age of 2,5 years at epilepsy onset. Eight were novel. Two variants known leading to gain function (GOF) ...

Abstract Background Leucine-rich glioma-inactivated protein 1 (LGI1) antibody-mediated encephalitis is a rare subtype of autoimmune encephalopathy, which associated with autoimmunity against the neuronal plasma membrane proteins. The characteristic symptoms this disease are memory dysfunction, seizures, faciobrachial dystonic cognitive deficits, neuropsychiatric disturbances, and intractable hy...