Results 141 to 150 of about 6,465 (257)

Clinical trajectories and medication response in TBC1D24-related epilepsies. [PDF]

Epilepsia
Mondragon E, Magielski JH, Bane B, Nolan J, Ruggiero SM, Armstrong D, Arnold S, Sirsi D, Helbig I, McKee JL.   +9 more
europepmc   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Exploring role of genetics in diagnosing, management, and outcome of infantile epilepsy: A case series of three interesting cases. [PDF]

J Family Med Prim Care
Kadian J, Yadav D, Alhan P, Bhagwan J, Yadav D, Bhalla K.   +5 more
europepmc   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

Channelopathies and juvenile myoclonic epilepsy [PDF]

Epilepsia, 2010
openaire   +2 more sources

Seizures in children with Dravet syndrome in extreme heat: A qualitative study of parental perspectives

Developmental Medicine &Child Neurology, EarlyView.
Perspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. Abstract Aim To describe parental perspectives on how heatwaves and high ambient temperatures influence seizure ...
Angel Aledo‐Serrano, José Ángel Aibar, Domingo Palacios‐Ceña, Maria Salcedo‐Perez‐Juana, Maria Palacios‐Ceña, Simona Giorgi, Manuel Lorenzo‐Dieguez, Sanjay M Sisodiya, Cristina García‐Bravo   +8 more
wiley   +1 more source

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy. [PDF]

Epilepsy Curr
Yano ST, Phitsanuwong C.
europepmc   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source

Dysregulated circRNA Expression in Juvenile Myoclonic Epilepsy. [PDF]

Neuromolecular Med
Söylemez F, Arslan S, Kimyon AS, Kaleağası ŞH.   +3 more
europepmc   +1 more source