Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32


rs763353895 in KCNA2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 PMID 27457812 2017 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

PMID 27733563 2016 Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

PMID 25751627 2015 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PMID 25477152 2015 Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

PMID 28032718 2017 De novo KCNA2 mutations cause hereditary spastic paraplegia.

PMID 27543892 2016 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.