Results 101 to 110 of about 8,171 (145)

Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene. [PDF]

Ann Indian Acad Neurol
Mustafa F, Sha S, Macken WL, Wilson LA, Garg A, Gupta N, Bhatia R, Rajan R, Gupta A, Singh MB, Pitceathly RDS, Reilly MM, Hanna MG, Vishnu VV.   +13 more
europepmc   +1 more source

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

Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1. [PDF]

Epileptic Disord
Gunnar J, Liu Y, Eronen H, Joensuu T, Äikiä M, Hyppönen J, Silvennoinen K, Mervaala E, Hakumäki J, Lehesjoki AE, Kälviäinen R.   +10 more
europepmc   +1 more source

Lafora body disease: a case of progressive myoclonic epilepsy. [PDF]

BMJ Case Rep, 2020
Kaur R, Balaini N, Sharma S, Sharma SK.
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

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

Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy. [PDF]

Brain Commun
Bennett MF, Corbett MA, Kroes T, Canafoglia L, Oliver KL, Cameron JM, Sikta N, Munro J, Fearnley LG, Ibañez K, Tucci A, Sisodiya SM, Hildebrand MS, Scheffer IE, Courage C, Lehesjoki AE, Giuliano L, Didato G, Franceschetti S, Gecz J, Berkovic SF, Bahlo M.   +21 more
europepmc   +1 more source

Drug Treatment of Progressive Myoclonic Epilepsy. [PDF]

Paediatr Drugs, 2020
Holmes GL.
europepmc   +1 more source

[Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy]. [PDF]

Rev Neurol, 2022
Rubio-Nazábal E, Álvarez-Pérez P, Cores-Bartolomé C, Lema-Facal T.   +3 more
europepmc   +1 more source

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