Results 281 to 290 of about 345,837 (361)

Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.‐11C>T change upstream of the gene's normal ATG initiation codon of ...
Josua Kegele   +7 more
wiley   +1 more source

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

open access: yesEpilepsia, EarlyView.
Abstract Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α‐2 subunit of GABAA receptors, have been recently reported.
Marie Adamo‐Croux   +15 more
wiley   +1 more source

Predicting factors for acute encephalopathy in febrile seizure children with SARS-CoV-2 omicron variant: a retrospective study. [PDF]

open access: yesBMC Pediatr
Tang CM   +11 more
europepmc   +1 more source

Do clinical variables predict an abnormal EEG in patients with complex febrile seizures? [PDF]

open access: bronze, 2005
Charuta Joshi   +3 more
openalex   +1 more source

Development of a preclinical testing platform for clinically relevant therapy for Dravet syndrome

open access: yesEpilepsia, EarlyView.
Abstract Objective Patients with drug‐resistant epilepsy, including Dravet syndrome, are frequently prescribed multiple antiseizure medications. Nevertheless, people with Dravet syndrome often have inadequate seizure control, and there is an ongoing unmet clinical need to identify novel therapeutics.
Jeffrey A. Mensah   +7 more
wiley   +1 more source

Non‐discontinuation of antiseizure medication in seizure‐free patients with epilepsy: Reasons and predictors among neurologists and patients

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate clinical and psychosocial factors associated with antiseizure medication (ASM) non‐discontinuation in seizure‐free patients with epilepsy among both neurologists and patients. Methods In this cross‐sectional study, neurologists documented their recommendations on ASM discontinuation ...
Maria Ilyas‐Feldmann   +9 more
wiley   +1 more source

De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection‐related epilepsy syndrome

open access: yesEpilepsia, EarlyView.
Abstract Febrile infection‐related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus following a febrile illness with resulting refractory epilepsy. Evidence supports the presence of immune dysregulation in patients with FIRES, but a monogenic basis for FIRES has not been identified in most cases.
Kristen S. Fisher   +9 more
wiley   +1 more source

Trends in epilepsy surgery in Italy before and after the COVID‐19 pandemic: A nationwide study

open access: yesEpilepsia, EarlyView.
Abstract Objective To study the current practice of epilepsy surgery in Italy and the relative impact of coronavirus disease 2019 (COVID‐19) pandemic on it. Methods We launched a survey through the Italian National Virtual Epilepsy Institute, to identify centers with epilepsy surgery programs and collect data on the current preoperative and surgical ...
Giuseppe Didato   +78 more
wiley   +1 more source

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