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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

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Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

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Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial

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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

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Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

Wie, J., Bharthur, A., Wolfgang, M., Narayanan, V., Ramsey, K., C4RCD Research Group, Belnap, N., Claasen, A., Courtright, A., de Both, M., et al. (2020) · Nature Communications

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