Page 34 - Read Online
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Page 284 Amadori et al. J Transl Genet Genom 2020;4:278-84 I https://doi.org/10.20517/jtgg.2020.36
11. Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic
encephalopathy. Ann Neurol 2014;75:382-94.
12. Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, et al. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or
developmental and epileptic encephalopathy. Epilepsia 2019;60:1870-80.
13. Cornet MC, Sands TT, Cilio MR. Neonatal epilepsies: clinical management. Semin Fetal Neonatal Med 2018;23:204-12.
14. Vilan A, Mendes Ribeiro J, Striano P, Weckhuysen S, Weeke LC, et al. A distinctive ictal amplitude-integrated electroencephalography
pattern in newborns with neonatal epilepsy associated with KCNQ2 mutations. Neonatology 2017;112:387-93.
15. Scala M, Bianchi A, Bisulli F, Coppola A, Elia M, et al. Advances in genetic testing and optimization of clinical management in children
and adults with epilepsy. Expert Rev Neurother 2020;20:251-69.
16. Dilena R, De Liso P, Di Capua M, Consonni D, Capovilla G, et al. Influence of etiology on treatment choices for neonatal seizures: a
survey among pediatric neurologists. Brain Dev 2019;41:595-9.
17. Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype
and treatment response. Neurology 2014;82:368-70.
18. Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, et al. ILAE classification of the epilepsies: position paper of the ILAE
commission for classification and terminology. Epilepsia 2017;58:512-21.
19. Schubert-Bast S, Hofstetter P, Fischer D, Schloesser R, Ramantani G, et al. Sodium channel blockers in KCNQ2-encephalopathy:
Lacosamide as a new treatment option. Seizure 2017;51:171-3.
20. Reif PS, Tsai MH, Helbig I, Rosenow F, Klein KM. Precision medicine in genetic epilepsies: break of dawn? Expert Rev Neurother
2017;17:381-92.
21. Klotz KA, Lemke JR, Korinthenberg R, Jacobs J. Vitamin B6-responsive epilepsy due to a novel KCNQ2 mutation. Neuropediatrics
2017;48:199-204.