Results 71 to 80 of about 25,226 (299)
Epilepsia, EarlyView.Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze +19 more
wiley +1 more source
[Ketogenic Diet and its Evidence-Based Therapeutic Implementation in Endocrine Diseases].
, 2019 Ketogenic Diet and its Evidence-Based Therapeutic Implementation in Endocrine Diseases Abstract. Abstract: The ketogenic diet (KD) is a high-fat and very low-carb diet, which has been used primarily for treatment of therapy-resistant epilepsy in children.
Reber Aubry, Emilie +4 more
core +1 more source
Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations
Epilepsia, EarlyView.Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis +8 more
wiley +1 more source
Overview of Ketogenic Diet in the Laboratory
, 2016 Increased clinical interest in the ketogenic diet and similar metabolic treatments has naturally spurred research into mechanisms underlying their anticonvulsant/antiepileptogenic efficacy; significant progress and new insights are being made after many ...
Detlev Boison
core +1 more source
Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy
Epilepsia, EarlyView.Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann +16 more
wiley +1 more source
Ketogenic diet in endurance activities
, 2021 Název: Ketogenní diety u vytrvalostních sportů Cíl: Cílem práce je na základě systematické rešerše posoudit význam nízko- sacharidových, resp. ketogenních diet u vytrvalostních sportů.
Fišerová, Tereza
core
Epilepsia, EarlyView.Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen +15 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir +21 more
wiley +1 more source
Neonatal Cholestasis as a Side Effect of Ketogenic Diet
, 2023 20.500.12530/87858The ketogenic diet has emerged as a therapeutic intervention for refractory seizures in infants, but its efficacy and safety in neonates are not well established.
Zeballos-Sarrato, Susana +4 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source