Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: Proposal for a new channelopathy

Clinical Genetics

Volumn 87, Issue 2, 2015, Pages 1-3

  Pena, S D J ^a,b   Coimbra, R L M ^c  

^a Laboratório Gene Núcleo de Genética Médica   (Brazil)

^b FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^c STATE UNIVERSITY OF LONDRINA   (Brazil)

Author keywords

Ataxia; Epilepsy; Exome; KCNA2; Mutation; Potassium channel

Indexed keywords

ACETAZOLAMIDE; ETHOSUXIMIDE; POTASSIUM CHANNEL KV1.2; KCNA2 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; CHANNELOPATHY; CHILD; CHROMOSOME 1; EXERCISE; EXOME; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; MYOCLONUS EPILEPSY; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; ANIMAL; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MOUSE; MUTATION; PATHOLOGY;

MUS;

AMINO ACID SUBSTITUTION; ANIMALS; ATAXIA; CHANNELOPATHIES; EPILEPSIES, MYOCLONIC; EXOME; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; KV1.2 POTASSIUM CHANNEL; MALE; MICE; MUTATION;

EID: 84921411435     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12542     Document Type: Article

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