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Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport

Safoura Ghalamkari et al.
HAL (France) · Papers · License: Open Access
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Epileptic encephalopathy, 1, 0, SLC12A5, Potassium-chloride cotransporter 2, Inhibitory neurotransmitter
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Record · ID 350623
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