Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Neurology: Genetics

Volumn 2, Issue 5, 2016, Pages

  Engel, Andrew G ^a   Selcen, Duygu ^a   Shen, Xin Ming ^a   Milone, Margherita ^a   Harper, C Michel ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; SYNTAXIN 1B; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; BRAIN DISEASE; CASE REPORT; CAUSAL ATTRIBUTION; CONTROLLED STUDY; CORTICAL HYPEREXCITABILITY; ELECTRON MICROSCOPY; EPILEPTIC DISCHARGE; EXOME; FEBRILE CONVULSION; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE LOSS; GENE SEQUENCE; HAPLOINSUFFICIENCY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INFANT; LARVAL STAGE; MICROCEPHALY; MUNC13 1 GENE; MUTATIONAL ANALYSIS; MYASTHENIA; NEUROMUSCULAR TRANSMISSION; NONSENSE MUTATION; REGULATOR GENE; ZEBRA FISH;

EID: 85046981831     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000105     Document Type: Article

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