Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

Mayo Clinic Proceedings

Volumn 90, Issue 3, 2015, Pages 366-371

  Tacik, Pawel ^a   Guthrie, Kimberly J ^a   Strongosky, Audrey J ^a   Broderick, Daniel F ^a   Riegert Johnson, Douglas L ^a   Tang, Sha ^c   El Khechen, Dima ^c   Parker, Alexander S ^a   Ross, Owen A ^b   Wszolek, Zbigniew K ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c AMBRY GENETICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL ARTICLE; CLINICAL EVALUATION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EPISODIC ATAXIA TYPE 1; FAMILIAL DISEASE; FEMALE; HEREDITARY ATAXIA; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; WHOLE EXOME SEQUENCING; YOUNG ADULT; ATAXIA; EXOME; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MISSENSE MUTATION; MYOKYMIA; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ACETAZOLAMIDE; ANTICONVULSIVE AGENT;

ACETAZOLAMIDE; ANTICONVULSANTS; ATAXIA; BASE SEQUENCE; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EXOME; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; MYOKYMIA; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84961290935     PISSN: 00256196     EISSN: 19425546     Source Type: Journal    
DOI: 10.1016/j.mayocp.2015.01.001     Document Type: Article

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