Results 151 to 160 of about 8,267 (258)

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

Epilepsia, EarlyView.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott, Maria Fernanda Hermosillo Arrieta, Aislinn J. Williams   +2 more
wiley   +1 more source

Seizure classification using a multimodal seizure monitoring system (Nelli) in Dravet and Lennox–Gastaut syndromes: A non‐randomized, single‐center feasibility study

Epilepsia, EarlyView.
Abstract Objective This study aimed to assess the performance of the Nelli seizure monitoring system in detecting and classifying seizures during sleep or while at rest in bed in patients with Lennox–Gastaut syndrome (LGS) and Dravet syndrome (DS). Methods We conducted a non‐interventional, single‐center feasibility study from August 2023 to March 2024,
Line Kønig Wilms, Morten I. Lossius, Kaapo Annala, Jonas Abdel‐Khalik, Lena Fanter, Kaisa Elomaa, Jukka Peltola   +6 more
wiley   +1 more source

Long‐term outcomes of stereotactic radiofrequency ablation in hypothalamic hamartomas: A single‐center experience

Epilepsia, EarlyView.
Abstract Objective Hypothalamic hamartomas (HHs) lead to refractory epilepsy, and minimally invasive surgical approaches are standard of care for affected patients. Stereotactic radiofrequency thermocoagulation (SRT) is one of the treatment methods recognized to achieve seizure freedom. This study reports surgical outcome from a single center reporting
Peter Christoph Reinacher, Julia Jacobs, Mukesch Johannes Shah, Theo Demerath, Kathrin Wagner, Victoria San Antonio‐Arce, Horst Urbach, Volker Arnd Coenen, Andreas Schulze‐Bonhage, Kerstin Alexandra Klotz   +9 more
wiley   +1 more source

Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery. [PDF]

Epilepsy Behav Rep
Pentz R, Jones K, Mesterman R, RamachandranNair R, Otsubo H, Ochi A, Yau I, Donner EJ, Ibrahim GM, Jain P, Whitney R.   +10 more
europepmc   +1 more source

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin, Richard F. Chin, Morten I. Lossius, Dag Hofoss, Ragnhild E. Brandlistuen, Kari M. Aaberg   +5 more
wiley   +1 more source

Role of the Ketogenic Diet Therapy and ACTH as Second Treatments in Drug-Resistant Infantile Epileptic Spasms Syndrome. [PDF]

Nutrients
Dressler A, Bonfanti L, Trimmel-Schwahofer P, Porsche B, Bertoli S, Male C.   +5 more
europepmc   +1 more source

Identification of Important and Relevant Functioning‐Based Outcomes for Persons With an Oral Health Condition From the Patient's Perspective

Journal of Oral Rehabilitation, EarlyView.
Overview of the qualitative study “Identification of Important and Relevant Functioning‐Based Outcomes for Persons with an Oral Health Condition from the Patient's Perspective.” The study involved 36 adults with various oral health conditions and used focus groups and interviews analyzed thematically and linked to the ICF framework. Results covered all
C. Lenherr, M. Schimmel, G. Stucki, M. Selb   +3 more
wiley   +1 more source

Electrophysiological network predicts clinical response to vigabatrin in epileptic spasms. [PDF]

Front Neurol, 2023
Kim J, Kim MJ, Kim HJ, Yum MS, Ko TS.
europepmc   +1 more source

Cerebral visual impairment (CVI) overlooked: A retrospective review of missed opportunities to diagnose CVI

Ophthalmic and Physiological Optics, EarlyView.
Abstract Purpose Cerebral Visual Impairment (CVI) is the leading cause of paediatric visual impairment in developed countries. Earlier diagnosis provides access to early intervention, which may improve visual function, functional vision and developmental outcomes.
Melissa L. Rice, Terry L. Schwartz, Jillian Bulman, Li Lin, Karen Harpster   +4 more
wiley   +1 more source

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2. [PDF]

Epilepsia
Privitera F, Meossi C, Santorelli FM, Bartolini E.   +3 more
europepmc   +1 more source