Results 121 to 130 of about 5,960 (193)

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report. [PDF]

Cureus
Pejanovic-Skobic N, Demirovic S, Boban Raguz A, Bender M, Batinic D, Pravdic N.   +5 more
europepmc   +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

Video-EEG polygraphy in the clinical characterization of hyperkinetic movement disorders: a tertiary referral cohort. [PDF]

Front Neurol
Caputo D, Rasori B, Solazzi R, Canafoglia L, Visani E, Sebastiano DR, Zibordi F, Graziola F, Cantalupo G, Granata T, Zorzi G.   +10 more
europepmc   +1 more source

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review. [PDF]

BMC Neurol
Huang C, Kang Y, Peng R, Zhong H, Zeng N, Zhang L, Chen X, Du S.   +7 more
europepmc   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature. [PDF]

Epilepsia Open
Gburek-Augustat J, Lee IC, Rubino M, Topçu V, Chavez-Castillo M, Tu SC, Shinawi M, Alfradique-Dunham I, Valtcheva M, Adarmes-Gómez A, Macias-Garcia D, Laura Muñoz-Delgado L, Jesús S, Mir P, Merkenschlager A, Coppola A.   +15 more
europepmc   +1 more source

An epilepsy-associated KV3.1 potassium channel variant acts via dominant-positive effect. [PDF]

J Gen Physiol
Clatot J, Monnerie H, Panzer A, Platzer K, Goldberg EM.   +4 more
europepmc   +1 more source

Acute onset of progressive encephalomyelitis with rigidity and myoclonus complicated by paroxysmal respiratory failure: a case report. [PDF]

BMC Neurol
Deng H, Tang S, Wen J, Fan Y, Li J.
europepmc   +1 more source

Epilepsy and EEG abnormalities in neurodegenerative dementias: toward a system epilepsy framework. [PDF]

Front Aging Neurosci
Manganotti P, Palacino F, Pavan S, Benussi A.   +3 more
europepmc   +1 more source

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

Clin Case Rep
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +1 more source