Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome-Reference-Cited by-同舟云学术

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Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Published:2018-02-05 Issue:6 Volume:93 Page:1245-1247
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Angius A.¹^ORCID,Cossu S.²,Uva P.³,Oppo M.¹⁴,Onano S.¹⁴,Persico I.¹,Fotia G.³,Atzeni R.³,Cuccuru G.³,Asunis M.⁵,Cucca F.¹⁴,Pruna D.⁵,Crisponi L.¹⁴

Affiliation:

1. Institute of Genetic and Biomedical Research; National Research Council (CNR); Cagliari Italy

2. Department of Neuroscience and Neuro-Rehabilitation, UOC of Neurosurgery; Pediatric Hospital Bambino Gesù; Rome Italy

3. Centre for Advanced Studies, Research and Development in Sardinia (CRS4); Science and Technology Park Polaris; Pula Italy

4. Department of Biomedical Science; University of Sassari; Sassari Italy

5. Azienda Ospedaliera Brotzu; SSD of Neurology and Pediatric Epilettology; Cagliari Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13162/fullpdf

Reference5 articles.

1. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay;Al-Sayed;Am J Hum Genet,2013

2. The sodium leak channel, NALCN, in health and disease;Cochet-Bissuel;Front Cell Neurosci,2014

3. Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy, growth retardation, and severe intellectual disability;Stray-Pedersen;Am J Hum Genet,2016

4. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism;Köroğlu;J Med Genet,2013

5. A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm;Gal;Eur J Med Genet,2016

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1. Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review;Frontiers in Pediatrics;2024-05-30

2. Role of sodium leak channel (NALCN) in sensation and pain: an overview;Frontiers in Pharmacology;2024-01-11

3. New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN;Physiological Reviews;2024-01-01

4. A new neurodevelopmental disorder linked to heterozygous variants in UNC79;Genetics in Medicine;2023-09

5. Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program;Clinical Genetics;2023-06-19

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