Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity
| Autor: | Angelika F Hahn, Helge Boman, Joško Markić, Sanja Lovric Kojundzic, Per M. Knappskog, Bernarda Lozić, Stefan Johansson |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Nervous system medicine.medical_specialty Respiratory distress business.industry General Neuroscience Central apnea NALCN sodium leak channel infancy Sevoflurane 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Endocrinology Internal medicine medicine Missense mutation Neurology (clinical) Global developmental delay Circadian rhythm Respiratory system business 030217 neurology & neurosurgery medicine.drug |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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