Results 141 to 150 of about 77,401 (305)

Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare ACO2-Related Neurometabolic Diagnosis. [PDF]

Neurology, 2023
Lail N, Pandey AK, Venkatesh S, Noland RD, Swanson G, Pain D, Branson HM, Suzuki CK, Yoon G.   +8 more
europepmc   +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

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders. [PDF]

Int J Mol Sci, 2022
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F.   +13 more
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

The humanised CYP2C19 transgenic mouse exhibits cerebellar atrophy and movement impairment reminiscent of ataxia. [PDF]

Neuropathol Appl Neurobiol, 2023
Milosavljević F, Brusini I, Atanasov A, Manojlović M, Vučić M, Oreščanin-Dušić Z, Brkljačić J, Miljević Č, Nikolić-Kokić A, Blagojević D, Wang C, Damberg P, Pešić V, Tyndale RF, Ingelman-Sundberg M, Jukić MM.   +15 more
europepmc   +1 more source

Magnetic Resonance Imaging Findings in a Dog with Sensory Neuronopathy [PDF]

, 2015
Chrisman, Cummings, Cummings, Cummings, Cummings, De Lahunta, Duncan, Duncan, Franklin, Funamoto, Lauria, Mori, Porter, Redding, Steiss, Vandevelde, Vermeersch, Wouda   +17 more
core   +2 more sources

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia. [PDF]

Front Neurol, 2022
Chen J, Xiao J, Chen G, Xu Q, Wu X, Tian L, Huang Z, Xin C, Zhao Y, Guo Z, Zou Y, Wu Q.   +11 more
europepmc   +1 more source

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

Cerebellar atrophy and its implications on gait in cerebral amyloid angiopathy. [PDF]

J Neurol Neurosurg Psychiatry, 2022
Horn MJ, Gokcal E, Becker AJ, Das AS, Warren AD, Alzheimer Disease Neuroimaging Initiative, Schwab K, Goldstein JN, Biffi A, Rosand J, Polimeni JR, Viswanathan A, Greenberg SM, Gurol ME.   +13 more
europepmc   +1 more source