Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

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Neurotherapeutics - ISSN 1878-7479-21:1 (2024) p. 1-9
Auteur(s)
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Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies

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Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1046-1059
Auteur(s)
    Declan Gallagher, Eduardo Perez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Moller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

Developmental epileptic encephalopathy in DLG4-related synaptopathy

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Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1029-1045
Auteur(s)
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Drug resistant epilepsy and associated factors among children with epilepsies in tanzania : a cross-sectional study

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BMC neurology - ISSN 1471-2377-24:1 (2024) p. 1-7
Auteur(s)