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This report is a practical reference guide for genetic testing of SCN1A, the gene encoding the α1 subunit of neuronal voltage‐gated sodium channels (protein name: Nav1.1). Mutations in this gene are frequently found in Dravet syndrome (DS), and are sometimes found in genetic epilepsy with febrile seizures plus (GEFS+), migrating partial seizures of infancy (MPSI), other infantile epileptic encephalopathies,...
Epilepsy surgery is an accepted treatment option in patients with medically refractory focal epilepsy. Despite various advances in recording and localization noninvasive and invasive techniques (including electroencephalography (EEG), magnetic resonance imaging (MRI), positron emission tomography (PET), single photon emission computed tomography (SPECT), magnetoencephalography (MEG), subdural grids,...
PurposeThe new International League Against Epilepsy (ILAE) classification for focal cortical dysplasia (FCD) differentiates between patients with isolated FCD (type 1) and FCD with an associated hippocampal sclerosis (HS) (type 3a). In contrast to the former FCD classification by Palmini, which considered only histologic features, the novel ILAE classification also relies on magnetic resonance imaging...
Neurocysticercosis (NCC) is the main risk factor for late‐onset seizures in many Taenia solium endemic countries and is also increasingly recognized in high income countries, where it was once thought to have been eliminated. The course and outcome of NCC‐associated seizures and epilepsy are poorly understood. Substrates underlying NCC‐associated seizures and epilepsy are unknown. Another unknown...
Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Homozygous mutations in PRRT2 have also been reported in two families with intellectual disability (ID) and seizures. Heterozygous mutations in the genes...
PurposeSubtraction ictal single photon emission computed tomography (SPECT) co‐registered to magnetic resonance imaging (MRI) (SISCOM) is a useful modality to identify epileptogenic focus. Using this technique, several studies have generally considered the area of highest ictal hyperperfusion, as outlined by thresholding the difference images with a standard z score of 2, to be highly concordant to...
PurposeThree suicidal ideation and suicidal behavior instruments were used to assess the prevalence of lifetime and recent suicidal ideation and suicidal behavior in patients with frequent treatment‐resistant focal seizures who would be eligible for randomized clinical trials. This was done to determine which instrument was optimal for use in epilepsy.
MethodsIn a cross‐sectional study, we compared...
PurposeIncreasing evidence suggests that genetic variants from ABCC2 transporter may be associated with an altered response to antiepileptic drugs (AEDs). However, the variability in the selective inclusion of genetic variants in different studies makes delineation of the causal variant/s difficult. Furthermore, the differences in the frequency distribution and linkage disequilibrium (LD) pattern...
PurposeTo investigate whether using transcranial magnetic stimulation (TMS) to derive if measures of cortical excitability changes can distinguish between various adolescent/adult‐onset generalized epilepsy syndromes at different phases of the disorder.
MethodsOne hundred thirty‐seven patients with adolescent/adult‐onset generalized epilepsy divided into juvenile myoclonic epilepsy, juvenile absence...
Cerebral microbleeds (CMBs) are commonly found in patients with stroke and cerebral amyloid angiopathy. However, there have been no reports of CMBs or their acute appearance in patients with status epilepticus. Herein we describe two patients with refractory status epilepticus of uncertain origin. Both patients were previously healthy, and their initial imaging showed no underlying CMBs. One patient's...
15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recently, absence seizures with intellectual disability (ID) have been reported in patients carrying this mutation. We describe two families in which several...
PurposeDespite growing evidence on the occurrence of poor psychosocial adjustment, to the moment there is no formal assessment of social adjustment (SA) using a validated instrument developed and standardized for this purpose in patients with juvenile myoclonic epilepsy (JME). We aimed to: (1) verify social adjustment in patients with JME with an objective scale and; (2) identify whether clinical...
Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic EE with onset in the first year, and Lennox‐Gastaut...
PurposeTo report the identification of the T1174S SCN1A (NaV1.1) mutation in a three‐generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism.
MethodsThe five affected individuals underwent detailed clinical analyses. Mutation analyses was performed by direct sequencing of SCN1A; functional studies by expression in tsA‐201 cells. A computational...
Mutations in SCN2A gene cause a variety of epilepsy syndromes. We report a novel SCN2A‐associated epilepsy phenotype in monozygotic twins with tonic seizures soon after birth and a suppression‐burst electroencephalography (EEG) pattern. We reviewed the medical records, EEG tracings, magnetic resonance imaging (MRI), and neuropathologic findings, and performed whole genome sequencing (WGS) on Twin...
PurposeTo develop and validate a scale of social functioning for people with epilepsy (PWE)—the Social and Occupational Functioning Scale for Epilepsy (SOFSE).
MethodsAccording to the literature review and opinions from a panel of experts, PWE, and caregivers, a total of 31 questions were compiled. Questionnaires were analyzed from 172 adults with epilepsy.
Key FindingsThe final scale had 30 items...
All consultant epilepsy neurosurgeons were asked to prospectively record all epilepsy surgery procedures carried out at their center between April 2010 and March 2011. Figures were compared to a previous survey completed in 2000. Of a total of 710 procedures, temporal lobe surgery was the most common resective surgery. Although extratemporal lesional surgery was less common, vagus nerve stimulator...
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