The management of childhood epilepsy requires attention to more than seizure control because children with epilepsy often suffer from comorbidities that lead to an increased frequency of psychiatric disease, learning difficulties, and other problems of psychosocial development. These comorbidities can stem in part from the same genetic traits that determine seizure susceptibility. Thus, mutations affecting potassium, calcium, and sodium channels have been linked with epilepsy syndromes and affective and behavioral abnormalities. It is important to consider the effect of antiepilepsy drugs on comorbid conditions and the effect on seizures of drugs used to treat comorbidities. A number of antiepilepsy drugs are available that have minimal adverse cognitive effects, and some can have positive effects on mood and behavior. Epilepsy in a child is a condition that affects and is affected by the entire family situation. In addition to appropriate neuropsychologic evaluation, optimal management of childhood epilepsy also can require the involvement of the social worker, advanced practice nurse, and educational specialist. Many elements of the multidisciplinary team approach can be instituted by the child neurologist in community practice and at large, specialized epilepsy centers.
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http://dx.doi.org/10.1177/088307380401900509 | DOI Listing |
Epilepsia
January 2025
Atalanta Therapeutics, Boston, Massachusetts, USA.
Objective: Gain-of-function variants in the KCNT1 gene, which encodes a sodium-activated potassium ion channel, drive severe early onset developmental epileptic encephalopathies including epilepsy of infancy with migrating focal seizures and sleep-related hypermotor epilepsy. No therapy provides more than sporadic or incremental improvement. Here, we report suppression of seizures in a genetic mouse model of KCNT1 epilepsy by reducing Kcnt1 transcript with divalent small interfering RNA (siRNA), an emerging variant of oligonucleotide technology developed for the central nervous system.
View Article and Find Full Text PDFJ Clin Nurs
January 2025
Department for Postgraduate Studies, Lovisenberg Diaconal University College, Oslo, Norway.
Aims: (1) To codesign a health literacy intervention within a specialist healthcare setting to help the parents of children with epilepsy access, comprehend, use and communicate information and (2) to assess the intervention's feasibility by exploring stakeholders' perspectives on its usefulness, ease of use of trial methods and contextual factors impacting its execution.
Design: A codesign participatory approach followed by a feasibility approach inspired by the OPtimising HEalth LIteracy and Access to Health Services (Ophelia) process for health literacy intervention development.
Methods: (1) The codesign approach included workshops with (a) multidisciplinary personnel (n = 9) and (b) parents (n = 12), along with (c) an interview with one regional epilepsy specialist nurse (n = 1).
Epilepsia
January 2025
IRCCS Institute of Neurological Sciences of Bologna, Full Member of the European Reference Network EpiCARE, Bologna, Italy.
Objective: This study aimed to identify prescribing behaviors in women of childbearing potential (WOCP) with epilepsy already taking valproate (VPA), and to investigate the relationship between VPA maintenance, substitution, reduction, or withdrawal as part of polytherapy, and seizure worsening or relapse.
Methods: We retrospectively reviewed the prescription behaviors and seizure outcomes in WOCP (16-50 years of age) with epilepsy, referred to eight Italian epilepsy centers, who were taking VPA for at least 1 year between 2014 and 2019.
Results: Among 750 women (~12% of all WOCP), 528 (70.
Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is associated with a complex genetic architecture, but the translation from genetic risk factors to brain vulnerability remains unclear. Here, we examined associations between epilepsy-related polygenic risk scores for HS (PRS-HS) and brain structure in a large sample of neurotypical children, and correlated these signatures with case-control findings in in multicentric cohorts of patients with TLE-HS. Imaging-genetic analyses revealed PRS-related cortical thinning in temporo-parietal and fronto-central regions, strongly anchored to distinct functional and structural network epicentres.
View Article and Find Full Text PDFJ Vasc Bras
January 2025
Universidade Federal da Paraíba - UFPB, Hospital Universitário Lauro Wanderley - HULW, João Pessoa, PB, Brasil.
Pulmonary arteriovenous malformations (PAVM) are characterized by abnormal pulmonary vessels forming arteriovenous shunts that compromise oxygenation of the blood, causing hypoxemia, and predispose to infections and cerebral ischemia. The patient in this case was a 38-year-old male who presented with tachypnea and dyspnea, cyanosis of extremities, and significant digital clubbing. The patient had structural epilepsy secondary to neurosurgery for a cerebral abscess during childhood.
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