Naslov
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

Autori
Lozić, Bernarda ; Johansson, Stefan ; Lovrić Kojundžić, Sanja ; Markić, Joško ; Knappskog, Per Morten ; Hahn, Angelika F. ; Boman, Helge

Izvornik
Annals of clinical and translational neurology (2328-9503) 3 (2016), 11; 876-883

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
NALCN ; sodium leak channel ; infancy

Sažetak
The sodium leak channel, a Na+-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+- leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation in NALCN (c.956C>T ; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus-induced, episodic contractures of the limbs and face with associated respiratory distress ; distal arthrogryposis ; severe axial hypotonia ; and severe global developmental delay (CLIFAHDD syndrome). In infancy, she manifested a reversed sleep-wake rhythm, nocturnal life-threatening respiratory rhythm disturbances with central apnea. Sevoflurane sensitivity caused respiratory depression and cardiac arrest.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA