Results 111 to 120 of about 2,837 (201)

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study. [PDF]

Epilepsia
Brulé S, Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, Mauvais FX, Auvin S.   +5 more
europepmc   +1 more source

Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis. [PDF]

Front Neurol
d'Orsi G, Di Claudio MT, Soccio AA, Palumbo V, Ferro CP, Costantino U, Latino R, Fogli D.   +7 more
europepmc   +1 more source

Expanding the spectrum of <i>NUS1</i>-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin. [PDF]

Front Genet
Sau C, López-Rodríguez S, Falip M, Esteve-Garcia A, Sala-Padró J, Aguilera C, Navarro-Romero A, Lasa-Aranzasti A, Rodríguez-Bel L, Hernández-Pérez G.   +9 more
europepmc   +1 more source

Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies. [PDF]

Int J Mol Sci
Na JH, Lee YM.
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment. [PDF]

Curr Neurol Neurosci Rep
Clayton LM, Vakrinou A, Balestrini S, Sisodiya SM.   +3 more
europepmc   +1 more source

Epilepsy, Progressive Myoclonic 7 [PDF]

, 2020
openaire   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance. [PDF]

Mov Disord
Akçimen F, Alvarez Jerez P, Guliyeva U, Lee J, Malik L, Baker B, Salayev K, Guliyeva S, Billingsley KJ, Houlden H, Singleton AB, Blauwendraat C, Bandres-Ciga S, Kaiyrzhanov R.   +13 more
europepmc   +1 more source

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy. [PDF]

BMC Neurol
Naderian R, Vafaeian F, Hoseini SM, Sanami S.   +3 more
europepmc   +1 more source

Progressive myoclonic epilepsy with dystonia [PDF]

, 2020
openaire   +1 more source