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

Journal of Medical Genetics

Volumn 53, Issue 6, 2016, Pages 397-402

  Perez, Yonatan ^a   Kadir, Rotem ^a   Volodarsky, Michael ^a   Noyman, Iris ^b   Flusser, Hagit ^b   Shorer, Zamir ^b   Gradstein, Libe ^a   Birnbaum, Ramon Y ^a   Birk, Ohad S ^a,b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; CATION CHANNEL NALCN; PROTEIN; PROTEIN UNC80; UNCLASSIFIED DRUG; CARRIER PROTEIN; CATION; MEMBRANE PROTEIN; NALCN PROTEIN, HUMAN; SODIUM CHANNEL; STOP CODON; UNC80 PROTEIN, HUMAN;

ARTICLE; BEDOUIN; CHILD; CHROMOSOME 2; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CONVERGENT STRABISMUS; DYSKINESIA; FACE DYSMORPHIA; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HEREDITY; HIP CONTRACTURE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LINKAGE ANALYSIS; MICROCEPHALY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NONSENSE MUTATION; PHENOTYPE; PLAGIOCEPHALY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCOLIOSIS; SEIZURE; SEQUENCE ALIGNMENT; SPEECH DELAY; EPILEPSY; EXOME; FEMALE; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; MALE; METABOLISM; NERVE CELL; STOP CODON; SYNDROME;

CARRIER PROTEINS; CATIONS; CODON, NONSENSE; DYSKINESIAS; EPILEPSY; EXOME; FEMALE; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUSCLE HYPOTONIA; NEURONS; SODIUM CHANNELS; SYNDROME;

EID: 84974800521     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103352     Document Type: Article

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