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Neuropediatrics|November 19, 2025
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment OutcomesV Thormeyer, Z Meyer, T Polster, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 21, 2015
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsyA Müller, I Helbig, C Jansen, et al.
Clinical Genetics|November 29, 2007
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndromeA L Schulz, B Albrecht, C Arici, et al.
Neurology|August 1, 2007
Location and type of mutation in the LIS1 gene do not predict phenotypic severityG Uyanik, D J Morris-Rosendahl, J Stiegler, et al.
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