Results 81 to 90 of about 1,556 (197)
Epilepsia, Volume 66, Issue 6, Page 1804-1823, June 2025.Abstract The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon the framework established in 2017. This revision, informed by the implementation experience, involved a working group appointed by the ILAE Executive Committee.
Sándor Beniczky +43 more
wiley +1 more source
Clinical observations of late infantile and juvenile forms of Niemann – Pick disease type C
Бюллетень сибирской медицины, 2017 A clinical description and analysis of cases of Niemann – Pick disease type C in two children are presented. The difficulty of the diagnosis is due to the polymorphism of clinical manifestations, variability in the age of manifestation, rarity of the ...
Irina F. Fedoseeva +3 more
doaj +1 more source
Hyperactivation Of Bdnf-Trkb Signaling Cascades In Human Hypothalamic Hamartoma (Hh): A Potential Mechanism Contributing To Epileptogenesis [PDF]
, 2015 Aims: Although compelling evidence suggests that human hypothalamic hamartoma (HH) is intrinsically epileptogenic for gelastic seizures, the molecular mechanisms responsible for epileptogenesis within HH remain to be elucidated. The aim of this study was
Berkovic +56 more
core +2 more sources
Cerebrospinal Fluid and Serum Neuron‐Specific Enolase in Niemann‐Pick Disease Type C1
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Niemann‐Pick disease, type C1 (NPC1) is an ultra rare, autosomal recessive disorder characterized by impaired intracellular cholesterol trafficking. This study assessed neuron‐specific enolase (NSE) as a biomarker for disease status and treatment response in individuals with NPC1.
Cameron J. Padilla +6 more
wiley +1 more source
Mapping preictal and ictal haemodynamic networks using video-electroencephalography and functional imaging [PDF]
, 2017 Ictal patterns on scalp-electroencephalography are often visible only after propagation, therefore rendering localization of the seizure onset zone challenging.
Bartlett, Phillipa +11 more
core
Epilepsia Open, Volume 10, Issue 2, Page 539-548, April 2025.Abstract Objective To report interim data from an ongoing, open‐label extension (OLE) of a Phase 2b study (X‐TOLE) of azetukalner in adults with focal onset seizures (FOS) receiving 1–3 antiseizure medications. Methods Eligible participants enrolled in the 7‐year OLE at 20 mg azetukalner once daily with food.
Jacqueline A. French +62 more
wiley +1 more source
Neurological complication leading to mortality after cyberknife radiosurgery for hypothalamic hamartoma [PDF]
, 2019 Hypothalamic hamartomas (HHs) are congenital abnormalities. They are mostly marked by epileptic seizures and shown in epileptogenesis. Stereotactic radiosurgery (RS), microsurgical resection, endoscopic disconnection, and stereotactic radiofrequency ...
Işık, Naciye +3 more
core +1 more source
Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly
The Turkish Journal of Pediatrics, 1996 An entity including gelastic epilepsy, precocious puberty, polydactyly and a hypothalamic hamartoma type IIa is described in a 16-year-old female patient.
G Turanli +3 more
doaj
Mitochondrial disease and endocrine dysfunction [PDF]
, 2017 Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC +4 more
core
The spectrum of involuntary vocalizations in humans: A video atlas [PDF]
, 2019 In clinical practice, involuntary vocalizing behaviors are typically associated with Tourette syndrome and other tic disorders. However, they may also be encountered throughout the entire tenor of neuropsychiatry, movement disorders, and ...
Balint, B +10 more
core +5 more sources