Results 111 to 120 of about 8,275 (187)

Progressive myoclonic epilepsies.

Neurosciences (Riyadh, Saudi Arabia), 2012
openaire   +3 more sources

Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case. [PDF]

J Neurosurg Case Lessons
Mine D, Shimogawa T, Sakai Y, Shigeto H, Okubo S, Sakata A, Watanabe E, Nakamizo A, Yoshimoto K.   +8 more
europepmc   +1 more source

Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association. [PDF]

Epilepsy Behav Rep, 2020
Talbot J, Singh P, Puvirajasinghe C, Genomics England Research Consortiumgecip-help@genomicsengland.co.uk, Sisodiya SM, Rugg-Gunn F.   +5 more
europepmc   +1 more source

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy. [PDF]

Ital J Pediatr
Bai J, Li P, Jiao H, Jin Y, Wang H, Jiang Q, Song F, Peng X, Qu Y.   +8 more
europepmc   +1 more source

Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report. [PDF]

Ital J Pediatr, 2020
Pedicelli S, de Palma L, Pelosini C, Cappa M.   +3 more
europepmc   +1 more source

Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India. [PDF]

J Mov Disord
Katragadda P, Holla VV, Arunachal G, Kamble N, Yadav R, Pal PK.   +5 more
europepmc   +1 more source

Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy. [PDF]

Iran J Child Neurol
Ahangari N, Arab F, Babaei M.
europepmc   +1 more source

Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report. [PDF]

BMC Neurol
G S B Lima PL, Nobrega PR, Freua F, Braga-Neto P, Paiva ARB, Guimarães TG, Kok F.   +6 more
europepmc   +1 more source

The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1. [PDF]

Cells
Singh S, Hämäläinen RH.
europepmc   +1 more source

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. [PDF]

Am J Hum Genet, 2020
Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.   +23 more
europepmc   +1 more source