Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

Neurology

Volumn 83, Issue 24, 2014, Pages 2247-2255

  Shen, Xin Ming ^a   Selcen, Duygu ^a   Brengman, Joan ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; ETIRACETAM; GENOMIC DNA; MUTANT PROTEIN; NEOSTIGMINE; PYRIDOSTIGMINE; SYNAPTOSOMAL ASSOCIATED PROTEIN 25; VALPROIC ACID; SNAP25 PROTEIN, HUMAN; SNARE PROTEIN;

ANIMAL CELL; ANIMAL TISSUE; ARTHROPATHY; ARTICLE; ATAXIA; ATAXIC GAIT; BRAIN DISEASE; CASE REPORT; CELL MEMBRANE DEPOLARIZATION; CHILD; CHROMAFFIN CELL; CONTROLLED STUDY; CORTICAL HYPEREXCITABILITY; DYSARTHRIA; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EXOCYTOSIS; FEMALE; FLEXION CONTRACTURE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MINIATURE ENDPLATE POTENTIAL; MYASTHENIA; NERVE ENDING; NEUROMUSCULAR TRANSMISSION; NONHUMAN; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SEIZURE; WEAKNESS; ADOLESCENT; ANIMAL; BOVINE; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; GENETIC TRANSFECTION; GENETICS; METABOLISM; MICROELECTRODE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHYSIOLOGY; SYNAPSE VESICLE; SYNDROME;

ADOLESCENT; ANIMALS; ATAXIA; BRAIN DISEASES; CATTLE; CERCOPITHECUS AETHIOPS; CHROMAFFIN CELLS; COS CELLS; DNA MUTATIONAL ANALYSIS; EXOCYTOSIS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MICROELECTRODES; MOTOR ENDPLATE; MUTATION; SNARE PROTEINS; SYNAPTIC VESICLES; SYNAPTOSOMAL-ASSOCIATED PROTEIN 25; SYNDROME; TRANSFECTION;

EID: 84924120978     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001079     Document Type: Article

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