A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

Human Mutation

Volumn 36, Issue 8, 2015, Pages 753-757

  Aoyagi, Kyota ^a   Rossignol, Elsa ^b,c   Hamdan, Fadi F ^b   Mulcahy, Ben ^d   Xie, Lin ^d   Nagamatsu, Shinya ^a   Rouleau, Guy A ^e   Zhen, Mei ^d   Michaud, Jacques L ^b,c  

^a KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF MONTREAL   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d MOUNT SINAI HOSPITAL   (Canada)

^e MCGILL UNIVERSITY   (Canada)

Author keywords

C. elegans; De novo; Gain of function; Na+ leak; NALCN

Indexed keywords

ACETAZOLAMIDE; AMITRIPTYLINE; GENOMIC DNA; ION CHANNEL; METHYL CPG BINDING PROTEIN 2; NALCN PROTEIN; PROTEIN; UNCLASSIFIED DRUG; CAENORHABDITIS ELEGANS PROTEIN; NALCN PROTEIN, HUMAN; NCA-1 PROTEIN, C ELEGANS; SODIUM CHANNEL;

AGITATION; ALLELE; APRAXIA; ARTHROGRYPOSIS; ARTICLE; ATAXIA; ATAXIC GAIT; ATTENTION; BASIC NEEDS; BIRTH; BLOOD; CAENORHABDITIS ELEGANS; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CHILDHOOD DISEASE; COGNITION; COMMUNICATION SKILL; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DIAPHORESIS; DISEASE ASSOCIATION; DISTRESS SYNDROME; DYSMETRIA; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; EMOTION; EXOME; FACE DYSMORPHIA; FATIGUE; FEMALE; FINGER; FLEXION CONTRACTURE; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENOME; GENOTYPE; HAND MOVEMENT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFORMATION PROCESSING; INTELLECTUAL IMPAIRMENT; IRRITABILITY; LOCOMOTION; MALAISE; MEDIAN NERVE; MIGRAINE; MOTOR NERVE CONDUCTION; MOTOR PERFORMANCE; MOVEMENT (PHYSIOLOGY); MUSCLE HYPOTONIA; NERVE BIOPSY; NEUROIMAGING; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PARENT; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SPASTICITY; VOMITING; ANIMAL; GENETICS; METABOLISM; MUTATION; PRESCHOOL CHILD;

CAENORHABDITIS ELEGANS; INVERTEBRATA; VERTEBRATA;

ACETAZOLAMIDE; ANIMALS; ARTHROGRYPOSIS; ATAXIA; CAENORHABDITIS ELEGANS; CAENORHABDITIS ELEGANS PROTEINS; CHILD, PRESCHOOL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; ION CHANNELS; MUTATION; SODIUM CHANNELS;

EID: 84937725366     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22797     Document Type: Article

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