Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

Abstract

Objective

Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy—B(F)NE)—or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants.

Methods

KCNQ2 pathogenic variants were collected from in‐house data and two large disease databases with their clinical phenotypes. Nonpathogenic KCNQ2 variants were collected from the Genome Aggregation Database (gnomAD). Pathogenicity of all variants was reevaluated with clinical information to exclude irrelevant variants. The cumulative distribution plots of B(F)NE, KCNQ2 DEE, and gnomAD KCNQ2 variants were ...

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The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS)

Abstract

Objective

To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment.

Methods

Identification of the underlying etiology and response to treatment in 377 infants enrolled in a clinical trial of the treatment of infantile spasms between 2007 and 2014 using a systematic review of history, examination, and investigations. They were classified using the pediatric adaptation of International Classification of Diseases, Tenth Revision (ICD‐10).

Results

A total of 219 of 377 (58%) had a proven etiology, ...

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Sexual function in people with epilepsy: Similarities and differences with the general population

Abstract

Objective

The potential impact of epilepsy on sexual function is important for patient welfare, but often neglected. This study explored the occurrences of different sexual problems in patients with both well‐controlled and mostly refractory epilepsy, and compared these with equivalent information from the general population.

Methods

Between 2015 and 2017, a total of 221 adult inpatients and outpatients, mostly with intractable epilepsy, at the National Centre for Epilepsy in Norway, and 78 outpatients with well‐controlled epilepsy at Lillehammer hospital participated in a questionnaire ...

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Tracking a changing paradigm and the modern face of epilepsy surgery: A comprehensive and critical review on the hunt for the optimal extent of resection in mesial temporal lobe epilepsy

Abstract

Surgical management of medically intractable epilepsy was historically based on the premise of excising the presumed substrate of disease, that is, “the epileptogenic zone.” There was early interest in establishing the extent of resection of the temporal lobe that optimized postoperative reduction in seizure burden while preserving neurocognitive function. Studies approaching this question used varied methods of defining and measuring “extent,” complicating the task of distilling evidence‐based recommendations for surgical practice. A palpable shift in the paradigm of surgical epilepsy ...

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EEG before and after total corpus callosotomy for pharmacoresistant infantile spasms: Fast oscillations and slow‐wave connectivity in hypsarrhythmia

Abstract

Objective

We analyzed the features of fast oscillations (FOs) and connectivity in hypsarrhythmia to identify biomarkers for predicting seizure outcomes after total corpus callosotomy (TCC) in children with pharmacoresistant infantile spasms (IS). We hypothesize that the power of FOs and connectivity of slow waves in hypsarrhythmia would indicate the prognosis of IS.

Method

We retrospectively identified 42 children with pharmacoresistant IS who underwent TCC from 2009 to 2014 at Nagasaki Medical Center. We collected preoperative hypsarrhythmia for 200 seconds from each child. Children were ...

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Infertility, impaired fecundity, and live birth/pregnancy ratio in women with epilepsy in the USA: Findings of the Epilepsy Birth Control Registry

ABSTRACT

Objective

To determine the current risks of infertility and impaired fecundity as well as the live birth/pregnancy ratio among women with epilepsy (WWE) in the USA and whether antiepileptic drug (AED) use is a factor.

Methods

These retrospective survey data come from the 2010‐2014 Epilepsy Birth Control Registry (EBCR) Web‐based survey of 1000 WWE in the USA, aged 18‐47 years, who provided demographic, epilepsy, AED, reproductive, and contraceptive data. We report risks of infertility and impaired fecundity, live birth/pregnancy ratio, and whether outcomes differ ...

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Multicenter validation of automated trajectories for selective laser amygdalohippocampectomy

Abstract

Objective

Laser interstitial thermal therapy (LITT) is a novel minimally invasive alternative to open mesial temporal resection in drug‐resistant mesial temporal lobe epilepsy (MTLE). The safety and efficacy of the procedure are dependent on the preplanned trajectory and the extent of the planned ablation achieved. Ablation of the mesial hippocampal head has been suggested to be an independent predictor of seizure freedom, whereas sparing of collateral structures is thought to result in improved neuropsychological outcomes. We aim to validate an automated ...

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Cortical activation in generalized seizures

Abstract

Objective

Patients with generalized epilepsy exhibit different epileptiform events including asymptomatic interictal spikes (IS), absence seizures with spike‐wave discharges (SWDs), and myoclonic seizures (MS). Our objective was to determine the spatiotemporal patterns of cortical activation in SWDs, IS, and MS in the Gabra1+/A322D juvenile myoclonic epilepsy mouse.

Methods

We fabricated affordable, flexible high‐density electroencephalography (HdEEG) arrays and recorded spontaneous SWD, IS, and MS with video/HdEEG. We determined differences among the events in amplitude spectral density (ASD) in the δ/θ/α/β/γ frequency bands at baseline ...

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Exploring the complex associations over time among albendazole treatment, cyst evolution, and seizure outcomes in neurocysticercosis

Abstract

Objective

To develop a causal model for the occurrence of neurocysticercosis (NC)‐related seizures and test hypotheses generated from the model.

Methods

We used data from a randomized controlled trial comparing albendazole with placebo among patients newly diagnosed with NC. Based on our causal model, we explored the associations among albendazole treatment, NC cyst evolution, and seizure outcomes over 24 months of follow‐up using generalized linear mixed effect models.

Results

We included 153 participants, of whom 51% received albendazole. The association between seizure outcomes and treatment over ...

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