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Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_11572947

Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

About this item

Full title

Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

Publisher

United States: National Academy of Sciences

Journal title

Proceedings of the National Academy of Sciences - PNAS, 2001-10, Vol.98 (21), p.12272-12277

Language

English

Formats

Publication information

Publisher

United States: National Academy of Sciences

More information

Scope and Contents

Contents

KCNQ2 and KCNQ3 are two homologous K+channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to benign familial neonatal convulsions (BFNC), a generalized, idiopathic epilepsy of the newborn. We now describe a syndrome in which BFNC is followed...

Alternative Titles

Full title

Myokymia and Neonatal Epilepsy Caused by a Mutation in the Voltage Sensor of the KCNQ2 K+Channel

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmed_primary_11572947

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_11572947

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.211431298

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