Results 171 to 180 of about 202,258 (245)

The retrosigmoid trans-middle cerebellar peduncle approach for pontine cavernous malformations: multicenter experience. [PDF]

Acta Neurochir (Wien)
Al-Afif S, Hermann EJ, Früh A, Oltmanns J, Woitzik J, Vajkoczy P, Krauss JK.   +6 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Cells heal themselves: gene-edited hematopoietic stem cells restore frataxin deficiency in multiple organs. [PDF]

J Clin Invest
Osborne LR.
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Author Correction: HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia-Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10. [PDF]

Mov Disord Clin Pract
Desjardins C, Baik J, Bresciani L, Nilles C, Foucard C, Georget M, Daghsen L, Degos B, Méneret A, Roze E.   +9 more
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants. [PDF]

Neurogenetics
Ahmad R, Ayaz K, Khan MN, Naeem M, Houlden H.   +4 more
europepmc   +1 more source