36 research outputs found
Studio dei microasrousals in età pediatrica: confronto tra scoring manuale e sistema di reti neurali Bio Sleep System 4.1 Child Version
No full text2006 STUDIO DEI MICROAROUSALS IN ETÀ PEDIATRICA: CONFRONTO TRA SCORING MANUALE E SISTEMA DI RETI NEURALI BIO SLEEP SYSTEM 4.1 CHILD VERSION
No full text
Prescribing sodium oxybate for narcolepsy.
No full textRD&E staff can access the full-text of this article via OpenAthens. Click on the 'Additional Link' above to access the full-text and log in with NHS OpenAthens if prompted
Prescribing sodium oxybate for narcolepsy: Demanding that a patient's need is "exceptional" is irrational and should be abandoned
No full textPublishedEditorialJournalEditorial
Prescribing sodium oxybate for narcolepsy.
No full textRD&E staff can access the full-text of this article via OpenAthens. Click on the 'Additional Link' above to access the full-text and log in with NHS OpenAthens if prompted
Prescribing sodium oxybate for narcolepsy: Demanding that a patient's need is "exceptional" is irrational and should be abandoned
No full textEditorial
A novel ARX phenotype: Rapid neurodegeneration with Ohtahara Syndrome and a dyskinetic movement disorder
No full textARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy
