نتایج جستجو برای: episodic ataxia type 2

تعداد نتایج: 3480788  

Journal: :Neuroscience 2008
P Imbrici F Gualandi M C D'Adamo M Taddei Masieri P Cudia D De Grandis R Mannucci I Nicoletti S J Tucker A Ferlini M Pessia

Episodic ataxia type 1 (EA1) is a rare human neurological syndrome characterized by continuous myokymia and attacks of generalized ataxia that can be triggered by abrupt movements, emotional stress and fatigue. An Italian family has been identified where related members displayed continuous myokymia, episodes of ataxia, attacks characterized by myokymia only, and neuromyotonia. A novel missense...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2013
Laura Mascetti Ariane Foret Jessica Schrouff Vincenzo Muto Vinciane Dideberg Evelyne Balteau Christian Degueldre Christophe Phillips André Luxen Fabienne Collette Vincent Bours Pierre Maquet

Memories are consolidated during sleep by two apparently antagonistic processes: (1) reinforcement of memory-specific cortical interactions and (2) homeostatic reduction in synaptic efficiency. Using fMRI, we assessed whether episodic memories are processed during sleep by either or both mechanisms, by comparing recollection before and after sleep. We probed whether LTP influences these process...

Journal: :Human mutation 2004
Hane Lee Hui Wang Joanna C Jen Chiara Sabatti Robert W Baloh Stanley F Nelson

We describe a unique family in which several individual are affected with episodes of ataxia that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members had episodes typically lasting for several hours, and none of them had muscle abnormalities including myokymia. Episodic ataxia type 1 (EA1) was not considered initially as a clinical diagnosis for the affect...

Journal: :Acta psychologica 2015
Suzannah M Morson Chris J A Moulin Céline Souchay

Failure to recall an item from memory can be accompanied by the subjective experience that the item is known but currently unavailable for report. The feeling of knowing (FOK) task allows measurement of the predictive accuracy of this reflective judgement. Young and older adults were asked to provide answers to general knowledge questions both prior to and after learning, thus measuring both se...

Journal: :Appetite 2016
Lenny R Vartanian William H Chen Natalie M Reily Alan D Castel

This research examined the effects of both episodic memory and episodic future thinking (EFT) on snack food intake. In Study 1, female participants (n = 158) were asked to recall their lunch from earlier in the day, to think about the dinner they planned to have later in the day, or to think about a non-food activity before taking part in a cookie taste test. Participants who recalled their lun...

Journal: :Neurology: Clinical Practice 2019

2005
Hanna Harno Markus Färkkilä Maija Wessman

..................................................................................................................... 9 REVIEW OF THE LITERATURE .............................................................................. 10 1. CLINICAL CHARACTERISTICS OF MIGRAINE AND EPISODIC ATAXIA TYPE 2 ........................... 10 1.1. Migraine with and without aura .......................................

Journal: :Journal of Korean Medical Science 2001
S. H. Koh H. T. Kim S. H. Kim G. Y. Lee J. Kim M. H. Kim

Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by the alteration of the alpha1A voltage-dependent calcium channel subunit. Expansions of the CAG repeat in the CACNA1A gene on the short arm of the chromosome 19 induce SCA6, and point mutations in the same gene are responsible for EA2...

2006
Jeong-Min Kim Ji Soo Kim Chang-Seok Ki Beom-Seok Jeon

Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium channel, there are few reports of genetically confirmed EA-2 in Korea. In 1998, a Korean family wi...

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