John Libbey Eurotext

Dramatic response to lamotrigine in two patients with refractory epilepsy due to calcium channel mutations Article à paraître

Illustrations

  • Figure 1.
Auteurs
Department of Neurology, Wuxi Children’s Hospital, Wuxi, Jiangsu, China
Correspondence:
Ying Hua
Department of Neurology, Wuxi Children’s Hospital, Wuxi, Jiangsu, China
Jianbiao Wang
Department of Neurology, Wuxi Children’s Hospital, Wuxi, Jiangsu, China

  Early-infantile epileptic encephalopathy-69 (EIEE-69) is caused by CACNA1E gene variants. It is characterized by early-onset refractory seizures, hypotonia, developmental disorders, macrocephaly and congenital joint contracture [1]. Helbig et al. [1] reported that 80% of the patients had poor response to a variety of anti-seizure medication. Epilepsy with myoclonic-atonic seizure (EMAS) can be caused by variants of SCN1A, SLC6A1 and SYNGAP1 genes [2], and most patients present with developmental [...]