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Epilepsia Journal
Epilepsia Journal
@epilepsiajournal.bsky.social
6 months ago
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FGF12 duplications in DEE impair Nav channel function, leading to a loss-of-function effect and epilepsy-related regression.
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #FGF12 #intellectualdisability

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Epilepsia Journal
Epilepsia Journal
@epilepsiajournal.bsky.social
9 months ago
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Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome
doi.org/10.1111/epi....

#epilepsy #ILAE #epilepsia #DEE #earlyonset #FGF12 #FHF1 #sodiumchannelblocker

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