The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

By Martin Melinda S.   Tang Bin   Papale Ligia A.   Yu Frank H.   Catterall William A.   Escayg Andrew  

Human Molecular Genetics, Vol. 16, Iss. 23, 2007-12 ,pp. : 2892-2899

Oxford University Press

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Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

By Papale Ligia A.   Beyer Barbara   Jones Julie M.   Sharkey Lisa M.   Tufik Sergio   Epstein Michael   Letts Verity A.   Meisler Miriam H.   Frankel Wayne N.   Escayg Andrew  

Human Molecular Genetics, Vol. 18, Iss. 9, 2009-05 ,pp. : 1633-1641

Oxford University Press

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PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

By Ramonet David   Podhajska Agata   Stafa Klodjan   Sonnay Sarah   Trancikova Alzbeta   Tsika Elpida   Pletnikova Olga   Troncoso Juan C.   Glauser Liliane   Moore Darren J.  

Human Molecular Genetics, Vol. 21, Iss. 8, 2012-04 ,pp. : 1725-1743

Oxford University Press

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Cloning, structure and assignment to Chromosome 19q13 of the human Kir2.4 inwardly rectifying potassium channel gene ()

By Töpert Christoph   Döring Frank   Derst Christian   Daut Jürgen   Grzeschik Karl-Heinz   Karschin Andreas  

Mammalian Genome, Vol. 11, Iss. 3, 2000-03 ,pp. : 247-249

Springer Publishing Company

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IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

By Tyson Jessica  

Human Molecular Genetics, Vol. 6, Iss. 12, 1997-11 ,pp. : 2179-2185

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