Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay-Reference-Cited by-同舟云学术

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Published:2013-10 Issue:4 Volume:93 Page:721-726
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Al-Sayed Moeenaldeen D.,Al-Zaidan Hamad,Albakheet AlBandary,Hakami Hana,Kenana Rosan,Al-Yafee Yusra,Al-Dosary Mazhor,Qari Alya,Al-Sheddi Tarfa,Al-Muheiza Muhammed,Al-Qubbaj Wafa,Lakmache Yamina,Al-Hindi Hindi,Ghaziuddin Muhammad,Colak Dilek,Kaya Namik

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Cloning of a novel four repeat protein related to voltage-gated sodium and calcium channels;Lee;FEBS Lett.,1999

2. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm;Lu;Cell,2007

3. Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex;Lu;Neuron,2010

4. Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80;Lu;Nature,2009

5. The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line;Swayne;EMBO Rep.,2009

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