Results 71 to 80 of about 6,465 (257)

Evolution of genetically determined generalized epilepsies

Эпилепсия и пароксизмальные состояния, 2019
This article analyzes the available literature regarding the clinical manifestations, genetic determinants, prognosis and evolution of inherited generalized epilepsies.
E. A. Morozova, F. I. Gusyakov
doaj   +1 more source

Clinical Vignette: Piperacillin/tazobactam‐associated myoclonic status epilepticus in a patient with end‐stage renal failure on hemodialysis

Epileptic Disorders, EarlyView.
O. M. Malanga, G. Giovannelli, G. Pastorelli, S. Fittante, A. Poggesi, E. Rosati   +5 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

International Medical Case Reports Journal, 2019
Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric ...
Shervin Badv R, Nilipour Y, Rahimi-Dehgolan S, Rashidi-Nezhad A, Ghahvechi Akbari M   +4 more
doaj  

Mitochondrial myopathy and myoclonic epilepsy

Arquivos de Neuro-Psiquiatria, 1990
The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region.
Arruda, Walter O., Torres, Luiz F. B., lombes, Anne, Dimauro, Salvatore, Cardoso, Belkiss A., Teive, Hélio A. G., Paola, Duilton de, Seixas, Ricardo R.   +7 more
openaire   +5 more sources

Video‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review

Epilepsia, EarlyView.
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron, Robert Terziev, Maximilian Schöls, John McLaren, Tobias Loddenkemper, Jörg Wellmer, Sigrid Mues, Christian Meisel   +7 more
wiley   +1 more source

Cognitive and behavioral performance in children with epilepsy with myoclonic–atonic seizures [PDF]

Dementia & Neuropsychologia
. Epilepsy with myoclonic–atonic seizures (EMAS), or Doose syndrome, is characterized by the presence of atonic–myoclonic seizures that begin in childhood between 7 months and 6 years of age, which may present with cognitive and behavioral changes ...
Ericka Olívia Rodrigues Samoiloff, Denise Harumi Nakanishi, Eliane Correa Miotto   +2 more
doaj   +1 more source

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

Epilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer, Chiara A. Hummel, Tobias Baumgartner, Juliane L. Berns, Afaf Milad Said, Isabel Bünger, Susanne Schoch, Gábor Zsurka, Harald Prüss, Wolfram S. Kunz, Rainer Surges, Albert J. Becker, Julika Pitsch   +12 more
wiley   +1 more source

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source

Successful treatment of psychosis in dentatorubral‐pallidoluysian atrophy with quetiapine: A case report

Neuropsychopharmacology Reports, 2018
Introduction Patients with dentatorubral‐pallidoluysian atrophy (DRPLA) sometimes elicit psychosis. First‐generation antipsychotic drugs have been reported to be effective in treating psychotic symptoms associated with the disease.
Zui Narita, Tomiki Sumiyoshi
doaj   +1 more source