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

被引：23

作者：

Lozic, Bernarda ^{[1
]}

Johansson, Stefan ^{[2
,3
]}

Kojundzic, Sanja Lovric ^{[4
]}

Markic, Josko ^{[1
]}

Knappskog, Per Morten ^{[3
,5
]}

Hahn, Angelika F. ^{[6
]}

Boman, Helge ^{[3
]}

机构：

[1] Univ Hosp Ctr Split, Dept Pediat, Spinciceva 1, Split 21000, Croatia

[2] Univ Bergen, Dept Clin Sci, KG Jebsen Ctr Diabet Res, Bergen, Norway

[3] Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway

[4] Univ Hosp Ctr Split, Dept Diagnost & Intervent Radiol, Split, Croatia

[5] Univ Bergen, KG Jebsen Ctr Res Neuropsychiat Disorders, Bergen, Norway

[6] Western Univ, London Hlth Sci Ctr, Dept Clin Neurol Sci, London, ON, Canada

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2016年 / 3卷 / 11期

关键词：

SEVERE INTELLECTUAL DISABILITY; NEURONAL EXCITABILITY; CHANNEL COMPLEX; CATION CHANNEL; SUBSTANCE-P; MUTATIONS; HYPOTONIA; ARTHROGRYPOSIS; ENCEPHALOPATHY; IMPAIRMENT;

D O I：

10.1002/acn3.362

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：876 / 883

页数：8

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