Results 151 to 160 of about 1,057,814 (256)

Walsh & Hoyt: Dominant Optic Atrophy

, 2005
Autosomal dominant optic atrophy, type Kjer (McKusick no. 165500, gene symbol OPA1) (359), is believed to be the most common of the hereditary optic neuropathies. The estimated disease prevalence is 150,000, or as high as 110,000 in Denmark (360,361)
Nancy J. Newman, MD
core  

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case-Series and Literature Review. [PDF]

Mov Disord Clin Pract
Yoganathan S, Tochen L, Ganguly J, Chowdhury SR, AlFaris HS, Pai V, LeBlanc-Millar A, Breitbart S, Kumar H, Shroff M, Reginald A, Yoon G, Fasano A, Ibrahim GM, Gorodetsky C.   +14 more
europepmc   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Optic nerve hypoplasia - Clinical profile and co-relation with vision and neuro-radiological features. [PDF]

Indian J Ophthalmol
Kulkarni S, Nalawade R, Bhate M.
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

ID07 Post Papilledema Optic Atrophy

Post papilledema optic atrophy with gliosis and arteriolar narrowing. 1994. Anatomy: Optic disc. Pathology: Residue of long standing papilledema.
William F. Hoyt, MD
core  

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

Neurol Sci
Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L.   +10 more
europepmc   +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

Prognosis of Neurosyphilis Presenting with Optic Atrophy

Neurosyphilis, a condition caused by Treponema pallidum infection of the central nervous system, has seen a resurgence in recent years. This study focuses on the prognosis of optic atrophy (OA) associated with neurosyphilis, which can lead to ...
Yan Yan
core  

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source