Results 61 to 70 of about 5,863 (207)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Sex-specific disease modifiers in juvenile myoclonic epilepsy

Scientific Reports, 2022
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation.
Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Elena Gardella, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Rikke S. Møller, Ching Ching Ng, Alessandro Orsini, Mark I. Rees, Guido Rubboli, Kaja K. Selmer, Pasquale Striano, Marte Syvertsen, Rhys H. Thomas, Jana Zarubova, Mark P. Richardson, Lisa J. Strug, Deb K. Pal   +26 more
doaj   +1 more source

HLA genotype testing for carbamazepine, oxcarbazepine and eslicarbazepine: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, Volume 92, Issue 7, Page 1957-1976, July 2026.
Carbamazepine is licensed in the United Kingdom for the treatment of epilepsy, bipolar disorder and trigeminal neuralgia. The related compounds oxcarbazepine and eslicarbazepine are licensed for the treatment of epilepsy. These drugs can cause immune‐mediated hypersensitivity reactions, which typically affect the skin, and can be of variable severity ...
Lucy Galloway, Cinzia Dello Russo, Nicholas Bass, Elvira Bramon, Helen Cross, Natalie Curley, Sarah Curran, Helen Davies, Jana De Villiers, William Evans, Bernhard Frank, Alice Groves, Judith Hayward, Jon Higham, Dyfrig A. Hughes, Shwe Sin Kyaw, Anthony G. Marson, Ailsa McLellan, Seth Mensah, Francis O'Neill, Jane Sargison, Sanjay M. Sisodiya, Jill Swan, Joanna M. Zakrewska, Munir Pirmohamed   +24 more
wiley   +1 more source

Estudo clínico-epidemiológico de pacientes com epilepsia mioclônica juvenil: Clínica Multidisciplinar de Epilepsia da Policlínica de Referência Regional I/ SUS - Florianópolis/SC. [PDF]

, 1988
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Figueredo, Roberto
core  

Audiogenic reflex seizures in cats

, 2015
This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Sparkes, A, Harvey, Robert J, Bessant, C, Lowrie, M, Garosi, L, Harvey, RJ   +5 more
core   +1 more source

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review

Frontiers in Psychiatry, 2018
Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative).
Dominique Endres, Dominique Endres, Dirk-M. Altenmüller, Bernd Feige, Bernd Feige, Simon J. Maier, Simon J. Maier, Kathrin Nickel, Kathrin Nickel, Sabine Hellwig, Sabine Hellwig, Jördis Rausch, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P. Doerr, Karl Egger, Ludger Tebartz van Elst, Ludger Tebartz van Elst   +18 more
doaj   +1 more source

JAK Inhibition in PNPT1‐Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA).
Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia   +15 more
wiley   +1 more source

Structural abnormalities of the thalamus in juvenile myoclonic epilepsy

, 2011
Studies have suggested that the thalamus is a key structure in the pathophysiology of juvenile myoclonic epilepsy. The objective of the present investigation was to examine the thalami of patients with juvenile myoclonic epilepsy using a combination of ...
Lopes-Cendes, Iscia, Carlos A.M. Guerreiro, Luiz E. Betting, Betting, Luiz Eduardo Gomes Garcia [UNESP], Cendes, Fernando, Susana Barreto Mory, Fernandes, Paula T., Li, Li M., Marilisa M. Guerreiro, Li M. Li, Mory, Susana Barreto, Betting, Luiz Eduardo Gomes Garcia, Fernando Cendes, Guerreiro, Carlos A. M., Paula T. Fernandes, Guerreiro, Carlos A.M., Guerreiro, Marilisa M., Betting, Luiz E., Iscia Lopes-Cendes   +18 more
core   +1 more source

BOLD-fMRI activity informed by network variation of scalp EEG in juvenile myoclonic epilepsy [PDF]

, 2019
Epilepsy is marked by hypersynchronous bursts of neuronal activity, and seizures can propagate variably to any and all areas, leading to brain network dynamic organization.
Yun Qin, Yang, Huanghao, Yao, Yutong, Xiaoyan Jia, Yao, Dezhong, Yutong Yao, Dong, Li, Li Dong, Huanghao Yang, Jiang, Sisi, Jia, Xiaoyan, Sisi Jiang, Tao Zhang, Dezhong Yao, Qin, Yun, Cheng Luo, Luo, Cheng, Hui He, Zhang, Qiqi, Qiqi Zhang, He, Hui, Zhang, Tao   +21 more
core   +1 more source

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, Volume 11, Issue 3, Page 871-882, June 2026.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source