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Brain : a Journal of Neurology|September 25, 2010
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritanceDouglas E Crompton, Ingrid E Scheffer, Isabella Taylor, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 27, 2024
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathyMario Nappi, Giulio Alberini, Alessandro Berselli, et al.
Epilepsia|April 17, 2015
Early and effective treatment of KCNQ2 encephalopathyTiziana Pisano, Adam L Numis, Sinéad B Heavin, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|June 15, 2026
Long-term safety and efficacy of deoxycytidine/deoxythymidine in treatment of POLG-related disordersAnthony C T Cheung, Saoussen Berrahmoune, Christelle Dassi, et al.
Eclinicalmedicine|August 2, 2024
Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trialHeather Pekeles, Saoussen Berrahmoune, Christelle Dassi, et al.
International Journal of Molecular Sciences|October 30, 2020
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism PhenotypeKrysta J Trevis, Natasha J Brown, Cherie C Green, et al.
Neuron|January 5, 2018
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDaniel T Pederick, Kay L Richards, Sandra G Piltz, et al.
Annals of Neurology|May 4, 2010
Augmented currents of an HCN2 variant in patients with febrile seizure syndromesLeanne M Dibbens, Christopher A Reid, Bree Hodgson, et al.
American Journal of Human Genetics|December 19, 2001
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plusLouise A Harkin, David N Bowser, Leanne M Dibbens, et al.
Neurology. Genetics|August 12, 2024
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
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