Maintaining the balance: Both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy

Clinical Genetics

Volumn 88, Issue 2, 2015, Pages 137-139

  Drogemoller B I ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL KV1.2;

ARTICLE; GAIN OF FUNCTION MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; LENNOX GASTAUT SYNDROME; LOSS OF FUNCTION MUTATION; PHENOTYPE; PRIORITY JOURNAL; EPILEPSY; FEMALE; GENETICS; INFANTILE SPASM; MALE; MUTATION;

EPILEPSY; FEMALE; HUMANS; KV1.2 POTASSIUM CHANNEL; MALE; MUTATION; SPASMS, INFANTILE;

EID: 84935714148     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12615     Document Type: Article

References (3)

1. Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS et al. De novo mutations in epileptic encephalopathies. Nature 2013: 501 (7466): 217-221.
2. Orhan G, Bock M, Schepers D et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014: 75 (3): 382-394.
3. Pena SD, Coimbra RL. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet 2015: 87: e1-e3.