Results 61 to 70 of about 5,960 (193)

Autosomal dominant Kufs disease in a Georgian adult woman: A case report

Epilepsy & Behavior Reports
Progressive myoclonic epilepsies (PMEs) are a diverse group of neurodegenerative disorders characterized by myoclonus, seizures, and progressive cognitive and motor decline. This report presents a case of a subtype of PME, autosomal dominant Kufs disease
Nikoloz Papiashvili, Sopio Gagua, Nana Gonjilashvili, Natela Okujava, Aleksandre Tsereteli   +4 more
doaj   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Consensus‐based follow‐up and treatment registry for GNAO1‐associated disorder

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish consensus‐based recommendations on relevant domains of functioning and assessment instruments for an GNAO1‐associated disorder follow‐up and treatment registry. Method This was a mixed‐methods study consisting of a systematic literature search, a survey, and a real‐time Delphi procedure to achieve consensus on domains and ...
Larissa R. Heideman, Nicole I. Wolf, Moritz Thiel, Jolanda H. Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen‐Broekhuizen, J. Jasper Deuring, Annemieke I. Buizer, Laura A. Van De Pol   +9 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Pseudohallucination and Pilocytic Astrocytoma in the Pons

Brain and Behavior, Volume 16, Issue 6, June 2026.
In this graphic, we have briefly shown the process of diagnosing the root cause of the patient's psychiatric and psychological disorders and his treatment. The main reason for strengthening the idea that the primary and root cause of the patient's psychological abnormalities was not schizophrenia was that the patient himself occasionally knew that his ...
Ali Mohammadimoshganbar, Bernd Krämer, Memetkuly Kadyrov, Walter Brogiolo   +3 more
wiley   +1 more source

Efficacy and Safety of Adjunctive Perampanel in Young Children (7–46 Months) With Drug‐Resistant Epilepsy: A Real‐World Study

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This real‐world study evaluates adjunctive perampanel (PER) in young children (7–46 months) with drug‐resistant epilepsy. Results show clinically meaningful efficacy, with responder rates of up to 50% in certain syndromes. PER demonstrates a favorable safety profile, supporting its role as an effective treatment option in this age group.
Qiao Zeng, Xueqian Xia, Hao Zheng, Lu Yang, Li Jiang, Yue Hu   +5 more
wiley   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source

Beyond Broca and Wernicke: Epilepsy surgery in the language areas

Epileptic Disorders, Volume 28, Issue 3, Page 581-601, June 2026.
Abstract Epilepsy surgery in language areas is challenged by the intricacies of presurgical workup and surgical planning. In recent decades, the view of language‐related circuitry has shifted from being localized in a few cortical centers to a distributed, dynamically interconnected system, increasing complexity.
Carmen Barba, Alessandro De Benedictis, Veronica Pelliccia, Domenico Tortora, Federico Melani, Alessandro Consales, Domenica Immacolata Battaglia, Elisabetta Cesaroni, Lorenzo Ferri, Alice Noris, Matteo Pugnaghi, Michele Rizzi, Giuseppe Bertini, Flavio Villani, Laura Tassi, on behalf of Commission of Epilepsy Surgery, Italian League against Epilepsy   +16 more
wiley   +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

EFFICACY OF TOPIRAMATE AS ADD-ON THERAPY IN TWO DIFFERENT TYPES OF PROGRESSIVE MYOCLONIC EPILEPSY

Acta Medica, 2013
The present article describes two unrelated cases of progressive myoclonic epilepsy (PME) of the Lafora’s disease and Unverricht-Lundborg types who were treated with topiramate (TPM) as add-on therapy for their myoclonus.
Caner Feyzi Demir, Hasan Hüseyin Özdemir, Bülent Müngen   +2 more
doaj   +1 more source