Results 181 to 190 of about 291,310 (259)

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

open access: yesEpileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca   +10 more
wiley   +1 more source

Maternal and umbilical cord plasma concentrations of antiseizure medications: Results from the observational MONEAD study

open access: yesEpilepsia, EarlyView.
Abstract Objective Unanticipated changes in antiseizure medication (ASM) exposure can lead to subtherapeutic or toxic medication concentrations in the mother and unnecessary drug exposure for the fetus. The objectives of this study were to characterize ASM concentrations in mother's and cord blood at delivery in women with epilepsy (PWWE).
Charul Avachat   +138 more
wiley   +1 more source

DHA: Nutritional Programming During the First 1000 Days of Life. [PDF]

open access: yesNutrients
Sollena LM   +6 more
europepmc   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

open access: yesEpilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk   +8 more
wiley   +1 more source

Home - About - Disclaimer - Privacy