Associated Papers
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.
Ahmad SR et al.
Clinical Genetics, 2025
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
Gagnon KB et al.
American Journal of Physiology. Cell Physiology, 2013
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Dupré N et al.
Annals of Neurology, 2003
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC et al.
Nature Genetics, 2002
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