Results 101 to 110 of about 8,275 (187)

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

Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation. [PDF]

Epilepsy Behav Rep, 2021
Desai KM, Kumar P, Ravat PS, Ravat SH, Jain N, Agrawal S, Ansari R.   +6 more
europepmc   +1 more source

A prospective study of electrophysiological and behavioural measures of cognitive function in patients with epilepsy

, 2004
PhDAims: The aim of this thesis was firstly, to prospectively examine cognitive function in relation to epilepsy, with event-related potential (ERP) and neuropsychological assessments, over a one year period.
Sharma, Simeran
core  

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

Myoclonic status in non-progressive encephalopaties (MSNPE)

, 2012
The Authors review the electroclinical pictures of a large population of 37 females and 21 males outlining the existance of an epileptic syndrome characterized by the recurrence of long-lasting myoclonic status in children with a non progressive ...
DALLA BERNARDINA, Bernardo, Fontana E, DARRA, Francesca   +2 more
core  

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

[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

Lafora disease presented with juvenile myoclonic epilepsy clinical features

, 2009
Lafora Hastalığı Progressif Myoklonik Epilepsi olgularının %10 kadarını oluşturmaktadır. Sıklıkla 10-18 yaş arası ortaya çıkan ve otozomal resessif olarak kalıtılan bu hastalık, her iki cinside eşit olarak etkilemektedir.
G. Kandiloğlu, A. Gökçay, Ayşe Güler, H. Karasoy, Ö. E. Özbay   +4 more
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