Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
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Summary
NALCN is the gene responsible for INAD with facial dysmorphism, which forms a voltage-independent ion channel with a role in the regulation of neuronal excitability and testing infants with idiopathic severe growth retardation and neurodegeneration for NALCN mutations could benefit families.
- Type
- article
- Published
- 2013-06-07
- Cited by
- 72
- References
- 37
- OpenAlex
- https://openalex.org/W1992641408
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:32051280
Keywords
Genetics, Biology, Sanger sequencing, Exome sequencing, Retinitis pigmentosa
References
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- Apoptosis of insulin-secreting cells induced by endoplasmic reticulum stress is amplified by overexpression of group VIA calcium-independent phospholipase A2 (iPLA2 beta) and suppressed by inhibition of iPLA2 beta.
- INFANTILE NEUROANONAL DYSTROPHY
- Detecting polymorphisms and mutations in candidate genes.
- An unusual cation channel mediates photic control of locomotion in Drosophila.
- PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
- NALCN: A Regulator of Pacemaker Activity
- A Putative Cation Channel, NCA-1, and a Novel Protein, UNC-80, Transmit Neuronal Activity in C. elegans
- Cloning of a novel four repeat protein related to voltage‐gated sodium and calcium channels
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- Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
- Neurodegeneration associated with genetic defects in phospholipase A2
- The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm.
- PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort
- A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
- A new mouse model for infantile neuroaxonal dystrophy,inad mouse, maps to mouse Chromosome 1
- Novel splice‐site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
Cited by
- Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex
- The sodium leak channel, NALCN, in health and disease
- Defective lipid metabolism in neurodegeneration with brain iron accumulation (NBIA) syndromes: not only a matter of iron
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
- A Gain‐of‐Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis
- De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay
- UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
- Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
- Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
- De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
- Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
- A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
- Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
- Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2‐associated Andersen–Tawil Syndrome
- The leak channel NALCN controls tonic firing and glycolytic sensitivity of substantia nigra pars reticulata neurons
- Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone
- Neurometabolic disorders
- Muscle biopsy findings in a child with NALCN gene mutation.
- Nalcn Is a “Leak” Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing
- NALCN channelopathies
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