Results 91 to 100 of about 80,232 (259)

MRI and clinical characteristics of suspected cerebrovascular accident in nine cats [PDF]

, 2017
Objectives Cerebrovascular accidents (CVAs) are infrequently reported in cats. To date, clinical characteristics, including lesion localisation and MRI findings, have only been reported in two cats.
Beltran, E, Drees, R, Wittaker, D E
core   +2 more sources

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder. They rarely occur in children and most often have a monophasic course.
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
wiley   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source

MRI and clinical resolution of a suspected intracranial toxoplasma granuloma with medical treatment in a domestic short hair cat [PDF]

, 2017
A two-year-old cat was presented with a left paradoxical vestibular syndrome. MRI of the brain revealed an extra-axial homogenously contrast enhancing mass in the region of the left caudal cerebellar peduncle.
Beltran, E, Crawford, A H, Drees, R
core   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source