KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

Abstract

Objective

Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype correlations associated with frequently encountered variants.

Methods

A cross‐sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics.

Results

Twenty‐seven children (15 males, mean age = 40.8 months) were included. Seizure onset ranged from 1 day to 6 months, and half ...

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Analysis of antiseizure drug‐related adverse reactions from the electronic health record using the common data model

Abstract

Objective

Antiseizure drugs (ASDs) are known to cause a wide range of adverse drug reactions (ADRs). Recently, electronic health care data using the common data model (CDM) have been introduced and commonly adopted in pharmacovigilance research. We aimed to analyze ASD‐related ADRs using CDM and to assess the feasibility of CDM analysis in monitoring ADR in a single tertiary hospital.

Methods

We selected five ASDs: oxcarbazepine (OXC), lamotrigine (LTG), levetiracetam (LEV), valproic acid (VPA), and topiramate (TPM). Patients diagnosed with epilepsy and exposed ...

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A retrospective comparison of phenobarbital and levetiracetam for the treatment of seizures following cardiac surgery in neonates

Abstract

Objective

To compare the safety and efficacy of phenobarbital and levetiracetam in a cohort of neonates with seizures following cardiac surgery.

Methods

We performed a retrospective single‐center study of consecutive neonates with electrographically confirmed seizures managed with antiseizure medication after cardiac surgery from June 15, 2012 to December 31, 2018. We compared the safety and efficacy of phenobarbital and levetiracetam as first‐line therapy.

Results

First‐line therapy was phenobarbital in 31 neonates and levetiracetam in 22 neonates. Phenobarbital was associated with more adverse events (P = .006). Eight ...

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Effects of hippocampus‐sparing resections in the temporal lobe: Hippocampal atrophy is associated with a decline in memory performance

Abstract

Objective

In patients with temporal lobe epilepsy (TLE) with a nonlesional and nonepileptogenic hippocampus (HC), in order to preserve functionally intact brain tissue, the HC is not resected. However, some patients experience postoperative memory decline, possibly due to disruption of the extrahippocampal memory network and secondary hippocampal volume (HV) loss. The purpose of this study was to determine the extent of hippocampal atrophy ipsilateral and contralateral to the side of the surgery and its relation to memory outcomes.

Methods

Hippocampal volume and verbal ...

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Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Abstract

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals’ seizure and epilepsy syndromes ...

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Visual seizure annotation and automated seizure detection using behind‐the‐ear electroencephalographic channels

Abstract

Objective

Seizure diaries kept by patients are unreliable. Automated electroencephalography (EEG)‐based seizure detection systems are a useful support tool to objectively detect and register seizures during long‐term video‐EEG recording. However, this standard full scalp‐EEG recording setup is of limited use outside the hospital, and a discreet, wearable device is needed for capturing seizures in the home setting. We are developing a wearable device that records EEG with behind‐the‐ear electrodes. In this study, we determined whether the recognition of ictal patterns using ...

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Peri‐ictal responsiveness to the social environment is greater in psychogenic nonepileptic than epileptic seizures

Abstract

Objective

To look for evidence of peri‐ictal social interaction in psychogenic nonepileptic seizures (PNES) and epileptic seizures exploring the notion of PNES as a form of nonverbal communication.

Methods

Video recordings of typical seizures experienced by patients with epilepsy and PNES were obtained in a naturalistic social setting (residential epilepsy monitoring unit). Video analysis by three nonexpert clinicians identified 18 predefined semiological and interactional features indicative of apparent impairment of consciousness or of peri‐ictal responsiveness to the social environment with assessment of interrater ...

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