Surgical efficacy of drug-resistant epilepsy in children caused by GATOR1 complex mutation-associated malformation of cortical development
Objective To observe the disease characteristics and surgical efficacy in children with drug-resistant epilepsy caused by GATOR1 complex mutation-associated malformations of cortical development(MCD).Methods A retrospective analysis was conducted on the clinical data of 35 children with GATOR1 complex mutation-associated MCD who had drug-resistant epilepsy and underwent surgical treatment at the Pediatric Epilepsy Center of Peking University First Hospital from January 2015 to December 2020.The genetic characteristics,clinical features,surgical methods and efficacy were summarized and analyzed.Postoperative follow-up examinations were conducted at 3,6,12 months post operation and annually thereafter.Surgical efficacy was assessed based on the outcome of seizure control(Engel class Ⅰ).The postoperative seizure control curves of the patients were plotted using the Kaplan-Meier method,and the surgical efficacy of patients with different gene mutations was analyzed using the log-rank test.Results Among the 35 children,25(71.4％)had DEPDC5 mutations,4(11.4％)had NPRL2 mutations,and 6(17.2％)had NPRL3 mutations.The most common affected lobe was the frontal lobe(23 cases,65.7％),while involvement of the occipital lobe was the least common(9 cases,25.7％).Twenty-eight(80％)children underwent radical surgery directly,and 7(20％)children received stereotactic radiofrequency thermocoagulation(RFTC)and experienced recurrence.Among them,1 child continued oral medication,and the remaining 6 children underwent radical surgery.Among the 34 children who underwent radical surgery,21 underwent focal resection,and 13 underwent disconnection surgery.The postoperative pathological diagnosis was MCD,predominantly focal cortical dysplasia(FCD)type Ⅱa(20 cases,58.8％).The follow-up duration[M(Q1,Q3)]for the 35 children was 32(21,44)months.At the last follow-up,among the 34 children who underwent radical surgery,27(79.4％)achieved seizure control.One child treated with RFTC and medication only achieved Engel Class Ⅳ.At the last follow-up,the seizure control rates for children with DEPDC5,NPRL2,and NPRL3 mutations were 22/25,3/4,and 2/6,respectively.The log-rank test showed that the surgical efficacy of children with DEPDC5 mutations was superior to those with NPRL2 and NPRL3 mutations(P=0.006).Conclusions Observations indicate that among children with drug-resistant epilepsy caused by GATOR1 complex mutation-associated MCD who undergo surgical treatment,there is a higher prevalence of DEPDC5 mutations.The lesions mainly involve the frontal lobe,and the most common pathological change is FCD type Ⅱ a.Epilepsy surgery is an effective treatment method,with better efficacy observed in patients with DEPDC5 mutations compared to those with NPRL2 and NPRL3 mutations.
Drug resistant epilepsyMalformations of cortical developmentNeurosurgical proceduresGATOR1 complex
NETL
NSTL
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