Results 171 to 180 of about 1,057,814 (256)

The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis. [PDF]

Front Genet
St Clair Tracy H, Dutton GN, Hall HN, Blaikie A.   +3 more
europepmc   +1 more source

Spike detection in the wild: Screening of suspected temporal lobe epilepsy cases using a tailored 2‐channel wearable EEG

Epilepsia Open, EarlyView.
Abstract Objective To clinically validate the contribution of a custom‐built EEG wearable device (waEEG) compared to a full 10–20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs. Methods Patients (aged 16–91 years) with clinically suspected TLE who were
Daniel Filipe Borges, Joana Isabel Soares, Daniela Dias, Helena Cordeiro, Alberto Leal   +4 more
wiley   +1 more source

Late-Onset Rapidly Progressive Spastic Paraplegia with Extensive White Matter Abnormalities Associated with an MFN2 Variant. [PDF]

NeuroSci
Yang J, Park HM, Lee YB.
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant. [PDF]

Am J Case Rep
Alanazi KA, Alosaimi SM, Alzuabi A.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

IF202a Temporal Cupping with Dominant Hereditary Optic Atrophy

Right eye. Teenage boy. Dominant hereditary optic atrophy (Kjer). Shows pallor and shallow cupping temporally. Pair with IF2_2b. 1975. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report. [PDF]

BMC Pediatr
Sadek AA, Aladawy MA, Hassan K, Mansour TMM, Naser M, Elmoursy MM, Hedewy S, Hagag A, Mohamed KR, Abdelkreem E.   +9 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Case Report: Vision-threatening manifestations of choroidal osteomas and papilloedema in presumed Camurati-Engelmann disease. [PDF]

Front Neurol
Rao A, Cristescu I, Quhill H, Harley U, Ramalingam S, Tsermoulas G, Mollan SP, Berman G.   +7 more
europepmc   +1 more source