Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Corbett, Mark A., Bellows, Susannah T., Li, Melody, Carroll, Renee, Micallef, Silvana, Carvill, Gemma L., Myers, Candace T., Howell, Katherine B., Maljevic, Snezana, Lerche, Holger, Gazina, Elena V., Mefford, Heather C., Bahlo, Melanie, Berkovic, Samuel F., Petrou, Steven, Scheffer, Ingrid E. and Gecz, Jozef 2016, Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy, Neurology, vol. 87, no. 19, pp. 1975-1984, doi: 10.1212/WNL.0000000000003309.


Title Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Author(s) Corbett, Mark A.
Bellows, Susannah T.
Li, Melody
Carroll, Renee
Micallef, Silvana
Carvill, Gemma L.
Myers, Candace T.
Howell, Katherine B.
Maljevic, Snezana
Lerche, Holger
Gazina, Elena V.
Mefford, Heather C.
Bahlo, Melanie
Berkovic, Samuel F.
Petrou, Steven
Scheffer, Ingrid E.
Gecz, Jozef
Journal name Neurology
Volume number 87
Issue number 19
Start page 1975
End page 1984
Total pages 10
Publisher AAN Publications
Place of publication New York, N. Y.
Publication date 2016-11-08
ISSN 1526-632X
Keyword(s) Aged
Animals
Anticonvulsants
Ataxia
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Epilepsy
Family Health
Female
Humans
Infant
Kv1.2 Potassium Channel
Male
Membrane Potentials
Middle Aged
Models, Chemical
Mutation
Oocytes
Pharmacogenetics
Xenopus laevis
Young Adult
Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Neurosciences & Neurology
HETEROMULTIMERIC K+ CHANNELS
PHENOTYPIC SPECTRUM
ION CHANNELS
ENCEPHALOPATHY
GENE
KV1.2
SEIZURES
EXPANSION
NEURONS
TYPE-1
Language eng
DOI 10.1212/WNL.0000000000003309
Field of Research 1103 Clinical Sciences
1109 Neurosciences
1702 Cognitive Science
HERDC Research category C1.1 Refereed article in a scholarly journal
Copyright notice ©2016, American Academy of Neurology
Persistent URL http://hdl.handle.net/10536/DRO/DU:30110659

Document type: Journal Article
Collections: Faculty of Health
School of Psychology
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