Results 91 to 100 of about 5,960 (193)

Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. [PDF]

Brain Commun, 2021
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH, Italian Undiagnosed Diseases Network , Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF, ATPase Consortium , Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C, Rinaldi C.   +29 more
europepmc   +1 more source

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. [PDF]

Epilepsia, 2021
Carpenter JC, Männikkö R, Heffner C, Heneine J, Sampedro-Castañeda M, Lignani G, Schorge S.   +6 more
europepmc   +1 more source

TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy. [PDF]

Neurobiol Dis, 2023
Rubio T, Viana R, Moreno-Estellés M, Campos-Rodríguez Á, Sanz P.   +4 more
europepmc   +1 more source

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy. [PDF]

Cureus, 2021
Dudipala SC, M P, Chennadi AK.
europepmc   +1 more source

Altered Expression of Peroxiredoxins in Mouse Model of Progressive Myoclonus Epilepsy upon LPS-Induced Neuroinflammation. [PDF]

Antioxidants (Basel), 2021
Trstenjak Prebanda M, Matjan-Štefin P, Turk B, Kopitar-Jerala N.   +3 more
europepmc   +1 more source

Progressive Myoclonus Epilepsy of Lafora

Abstract Metformin is a biguanide drug that is commonly used as a first-line treatment for type 2 diabetes. This chemical works by activating the energy sensor AMPK that inhibits hepatic gluconeogenesis. Metformin’s therapeutic properties go beyond its use as an antidiabetic compound.
José M. Serratosa, Daniel F. Burgos, Luis Zafra-Puerta, Nerea Iglesias-Cabeza, Pascual Sanz, Marina P. Sánchez   +5 more
openaire   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. [PDF]

Yonago Acta Med
Tsuchie H, Kawanami Y, Yoshino G, Okanishi T, Maegaki Y.   +4 more
europepmc   +1 more source

Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age. [PDF]

Mol Neurobiol, 2020
Lahuerta M, Gonzalez D, Aguado C, Fathinajafabadi A, García-Giménez JL, Moreno-Estellés M, Romá-Mateo C, Knecht E, Pallardó FV, Sanz P.   +9 more
europepmc   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source