Results 111 to 120 of about 8,171 (145)

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

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

Long-term outcomes of two patients with progressive myoclonic epilepsy treated with vagus nerve stimulation therapy. [PDF]

Heliyon, 2020
Fujimoto A, Okanishi T, Sato K, Enoki H.
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

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

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. [PDF]

Seizure, 2019
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P.   +9 more
europepmc   +1 more source