Results 91 to 100 of about 8,275 (187)

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report. [PDF]

Front Neurol, 2022
Wang Y, Wang SY, Li K, Zhu YL, Xia K, Sun DD, Ai WL, Fu XM, Ye QR, Li J, Chen HZ.   +10 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. [PDF]

Clin Dysmorphol, 2022
Narayanan DL, Somashekar PH, Majethia P, Shukla A.   +3 more
europepmc   +1 more source

Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS. [PDF]

Ann Clin Transl Neurol, 2021
Kim S, Kim MJ, Son H, Hwang S, Kang MK, Chu K, Lee SK, Moon J.   +7 more
europepmc   +1 more source

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

, 2011
The potassium channel tetramerization domain-containing protein 7 (KCTD7) was named after the structural homology of its predicted N-terminal broad complex, tramtrack and bric à brac/poxvirus and zinc finger domain with the T1 domain of the Kv potassium ...
Bouschet, Tristan, Isabelle Pirson, Serge N. Schiffmann, Patrick Van Bogaert, Abramowicz, Marc, David Orduz, Marc J. Abramowicz, Azizieh, Naïm-Régis, Van Bogaert, Patrick, Régis Azizieh, Schiffmann, Serge N., Orduz Perez, David, Pirson, Isabelle, Wendy Rodriguez, Tristan Bouschet, Rodriguez, Wendy   +15 more
core   +1 more source

Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review. [PDF]

Front Pediatr, 2022
Duan J, Chen Y, Hu Z, Ye Y, Zhang T, Li C, Zeng Q, Zhao X, Mai J, Sun Y, Liu C, Zheng W, Xiao Y, Liao J, Chen L.   +14 more
europepmc   +1 more source

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association. [PDF]

J Neurosci Rural Pract, 2021
Radhakrishnan DM, Shree R, Madhaw G, Manchanda R, Mahadevan A, Kumar N.   +5 more
europepmc   +1 more source

Progressive myoclonic epilepsy

, 2020
Daniel Bell, Rohit Sharma
openaire   +1 more source

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.

Neurobiol Dis, 2023
Bernardi S, Gemignani F, Marchese M.
europepmc   +1 more source

Treatment of Progressive Myoclonic Epilepsy with Mephenesin [PDF]

BMJ, 1955
R E, KELLY, D R, LAURENCE
openaire   +2 more sources