Results 161 to 170 of about 43,499 (332)

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

open access: yesEpilepsia, Volume 66, Issue 7, Page 2379-2390, July 2025.
Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa   +28 more
wiley   +1 more source

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study

open access: yesEpilepsia, Volume 66, Issue 7, Page 2253-2267, July 2025.
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli   +68 more
wiley   +1 more source

Complex Febrile Seizures Followed by Complete Recovery in an Infant with High-Titer 2009 Pandemic Influenza A (H1N1) Virus Infection [PDF]

open access: bronze, 2010
Mandy F. O'Leary   +5 more
openalex   +1 more source

Reality Winners

open access: yes
Critical Quarterly, EarlyView.
Lee Grieveson
wiley   +1 more source

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study

open access: yesEpilepsia, Volume 66, Issue 7, Page 2480-2494, July 2025.
Abstract Objective The primary purpose was to assess the diagnostic performance of investigations in children with myoclonic epilepsy. The secondary objectives were to examine the definitive syndromic diagnoses and report the outcomes of pediatric myoclonic epilepsies.
Sophie Brulé   +5 more
wiley   +1 more source

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals

open access: yesEpilepsia, EarlyView.
Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry   +10 more
wiley   +1 more source

Profilaxia intermitente na convulsão febril com diazepam via oral Intermittent prophylaxis in febrile seizures with oral diazepam

open access: yesArquivos de Neuro-Psiquiatria, 1992
Apresentamos a profilaxia intermitente com diazepam via oral como opção de tratamento para convulsão febril. Justificamos essa proposta diante dos importantes efeitos colaterais que ocorrem com as duas medicações classicamente usadas na profilaxia ...
Marilisa M. Guerreiro   +5 more
doaj  

Unexpected Death of a Child with Complex Febrile Seizures—Pathophysiology Similar to Sudden Unexpected Death in Epilepsy? [PDF]

open access: gold, 2017
Brian J. Dlouhy   +6 more
openalex   +1 more source

Complex febrile seizures – are often not so simple.

open access: bronze, 2023
E.L. Nichols, I.R. Weintraub, B. May
openalex   +1 more source

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