Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

American Journal of Human Genetics

Volumn 98, Issue 1, 2016, Pages 210-215

  Shamseldin, Hanan E ^a   Faqeih, Eissa ^b   Alasmari, Ali ^b   Zaki, Maha S ^c   Gleeson, Joseph G ^d   Alkuraya, Fowzan S ^a,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c NATIONAL RESEARCH CENTRE   (Egypt)

^d ROCKEFELLER UNIVERSITY   (United States)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLASPARTIC ACID; NONSELECTIVE SODIUM LEAK CHANNEL; PROTEIN; SODIUM CHANNEL; UNC79 PROTEIN; UNC80 PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; MEMBRANE PROTEIN; NALCN PROTEIN, HUMAN; UNC80 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; BRAIN DISEASE; CACHEXIA; CASE REPORT; CHILD; CHROMOSOME 2; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EGYPTIAN; EXOME; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOME; HEAD CIRCUMFERENCE; HUMAN; HYPERACTIVITY; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MEDICAL HISTORY; MUSCLE ATROPHY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; OSTEOPENIA; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; RECURRENT ASPIRATION; SCHOOL CHILD; SEIZURE; SPASTICITY; STRABISMUS; TENDON REFLEX; GENETICS; INFANT; MUTATION; NEWBORN; RECESSIVE GENE; SEVERITY OF ILLNESS INDEX;

BRAIN DISEASES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; SEVERITY OF ILLNESS INDEX; SODIUM CHANNELS;

EID: 84954306836     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.11.013     Document Type: Article

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