Results 71 to 80 of about 3,423 (221)
Epilepsia Open, EarlyView.Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang +9 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]
, 2016 Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen +72 more
core +1 more source
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Epilepsia, Volume 66, Issue 3, Page 914-928, March 2025.Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot +19 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Epilepsy is a chronic neurological condition marked by recurrent, uncontrolled seizures. Identifying comorbidities in epilepsy is critical for preventing mortality. Among these, the autonomic nervous system's role in epilepsy often manifests as cardiac disorders. Patients with epilepsy (PWE), particularly those with poorly controlled seizures,
Enes Akyuz +2 more
wiley +1 more source
RARS2 mutations in a sibship with infantile spasms [PDF]
, 2016 Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum.
Bras, J +13 more
core +1 more source
Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity
Epilepsia, EarlyView.Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang +8 more
wiley +1 more source
Significance of High-frequency Electrical Brain Activity [PDF]
, 2017 Electroencephalogram (EEG) data include broadband electrical brain activity ranging from infra-slow bands (200 / 250 Hz, respectively) are particularly of note due to their very close relationship to epileptogenicity, with the possibility that they ...
Agari, Takashi +9 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo +9 more
wiley +1 more source
Confirmation of infantile spasms resolution by prolonged outpatient EEGs
Epilepsia Open, 2021 Objective There is no consensus on the type or duration of the posttreatment EEG needed for assessing treatment response for infantile spasms (IS). We assessed whether outpatient electroencephalograms (EEGs) are sufficient to confirm infantile spasms (IS)
Christopher J. Yuskaitis +4 more
doaj +1 more source