Results 181 to 190 of about 25,256 (244)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2558-2561, November 2026.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2568-2574, November 2026.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Phenotypic characterization of presumptive propriospinal myoclonus in young dogs (2013-2025). [PDF]

J Vet Intern Med
Polidoro D, Bhatti SFM, Santens P, Mandigers P, Santifort KM, Kanazono S, Lu D, Sánchez-Masián D, de Stefani A, Shafie INF, Álvarez P, Meyerhoff N, Jeroncic T, Lai SR, Dutil GF, Rohdin C, Marchand A, Thomovsky S, Liatis T.   +18 more
europepmc   +1 more source

Beneficial Role of Natural Polyphenols Against Epilepsy: Greasing the Wheels of Pharmacotherapy Research for Epilepsy

Food Frontiers, Volume 7, Issue 6, November 2026.
ABSTRACT Epilepsy is the most disabling neurological disease that affects all economic classes, age groups, regions, and races. Although many antiseizure drugs are approved for epilepsy treatment, they fail to work in about 30%–40% of patients. Thus, there is a great need to identify better pharmacological agents to treat epilepsy.
Janakiraman Pillai Udaiyappan, Rengasamy Balakrishnan, Manivasagam Muthukumaran Tamilarasan, Subasri Pandian   +3 more
wiley   +1 more source

Case Report: longitudinal imaging in a patient with SMART syndrome after cranial radiotherapy. [PDF]

Front Oncol
Kim DB, Bel Hadj Jrad H, Bender L, Beck J, Machein M.   +4 more
europepmc   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Donanemab Infusion and Recurrent Seizures in a Patient With Alzheimer's Disease and Epilepsy in the Absence of Amyloid-Related Imaging Abnormalities (ARIA). [PDF]

Cureus
Espinosa PS, Li S, Preisler J, Hennekens CH.   +3 more
europepmc   +1 more source

Severe maternal morbidity in pregnancies complicated by maternal seizure disorder

Pregnancy, Volume 2, Issue 6, November 2026.
Abstract Introduction Seizure disorders are a common comorbidity of pregnancy, leading to increased maternal and neonatal complications. In particular, we sought to identify the impact of seizure disorders on severe maternal morbidity (SMM) and hypertensive disorders of pregnancy in a contemporary cohort.
Janki Amin, Brianna Lau, Brandie D. Taylor, Calla Holmgren, Rachel K. Harrison   +4 more
wiley   +1 more source

Beyond a Single Etiology: Tachy-Brady Syndrome and Possible Coexisting Focal Epilepsy Presenting as Transient Loss of Consciousness. [PDF]

Cureus
Jonnalagadda DNMR, Beereddy D, Murillo-Garcia DR, Hingorani R.   +3 more
europepmc   +1 more source

Suspected hyperthyroidism‐associated myoclonus in a cat

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract A 10‐year‐old, male, neutered domestic shorthair cat presented with a 2‐week history of progressively worsening myoclonic jerks predominantly involving the head. Jerks were continuous and marked at rest, but became less intense during activity.
Magdalena Maria Dyrka, Ian Ramsey, Fiona May Keir James, Grace Kadler, Jessica Zilli, Rodrigo Gutierrez Quintana   +5 more
wiley   +1 more source