JLE

Epileptic Disorders

MENU

Dramatic response to lamotrigine in two patients with refractory epilepsy due to calcium channel mutations Volume 24, numéro 6, December 2022

  • [1.] Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, et al. De novo pathogenic variants in cacna1e cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am J Hum Genet 2018; 103(5): 666-78.
  • [2.] Chen JY, Zhang YH. Progress in molecular genetics of epilepsy with myoclonic-atonic seizure. Zhonghua Er Ke Za Zhi 2019; 57(5): 384-7.
  • [3.] Souza IA, Gandini MA, Zhang F-X, Mitchell WG, Matsumoto J, Lerner J, et al. Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy. Mol Brain 2019; 12 (1): 86.
  • [4.] Becker F, Reid CA, Hallmann K, Tae H-S, Phillips AM, Teodorescu G, et al. Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. Epilepsia Open 2017; 2(3): 334-42.
  • [5.] Glauser TA, Holland K, O’Brien VP, Keddache M, Martin LJ, Clark PO, et al. Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. Ann Neurol 2017; 81 (3): 444-53.
  • [6.] Perucca P, Mula M. Antiepileptic drug effects on mood and behavior: molecular targets. Epilepsy Behav 2013; 26(3): 440-9.
  • [7.] Byers HM, Beatty CW, Hahn SH, Gospe Jr SM. Dramatic response after lamotrigine in a patient with epileptic encephalopathy and a de novo CACNA1A variant. Pediatr Neurol 2016; 60: 79-82.