Narcolepsy is a common phenotype in HSAN IE and ADCA-DN

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Narcolepsy is a common phenotype in HSAN IE and ADCA-DN Keivan Kaveh Moghadam, Fabio Pizza, Chiara La Morgia, Christian Franceschini, Caterina Tonon, Raffaele Lodi, Piero Barboni, Marco Seri, Simona Ferrari, Rocco Liguori, Vincenzo Donadio, Piero Parchi, Ferdinando Cornelio, Domenico Inzitari, Andrea Mignarri, Giuseppe Capocchi, Maria Teresa Dotti, Juliane Winkelmann, Ling Lin, Emmanuel Mignot,...

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT1 as the only gene with mutations found in all five affected individuals. Sanger sequencing confir...

Streptococcus pyogenes adcA

What is Narcolepsy?

www.thoracic.org C LI P A N D C O P Y Sometimes a person with narcolepsy can also have problems with sudden muscle weakness known as cataplexy. Cataplexy can cause weakness of one area of your body such as an arm or a leg, slurred speech, or the complete inability to move. These abrupt episodes of weakness are often triggered by strong emotions such as surprise, laughter, happiness, fear, or an...

passivity in waiting for godot and endgame: a psychoanalytic reading

this study intends to investigate samuel beckett’s waiting for godot and endgame under the lacanian psychoanalysis. it begins by explaining the most important concepts of lacanian psychoanalysis. the beckettian characters are studied regarding their state of unconscious, and not the state of consciousness as is common in most beckett studies. according to lacan, language plays the sole role in ...