Benign familial/non-familial partial seizures in infancy were first proposed by Watanabe et al., as benign partial epilepsy in infancy(BPEI) with complex partial seizures (CPS) or secondary generalised seizures (SGS) and Watanabe et al., also proposed a clinical entity of BPEI combining BPEI with CPS and BPEI with SGS [
1‐
3]. Thereafter, patients reported by Vigevano et al. [
4], namely “Benign Infantile Familial Convulsiosimilarns”. Then the reports of the disease increased gradually. In 2001, the International League Against Epilepsy (ILAE) proposed that benign familial infantile convulsions (BFIC) should be classified as an independent epilepsy syndrome and be classified as familial focal epilepsy, which is also known as benign familial infantile seizures (BFIS). In 2010, ILAE commission revised the terminology and concepts for organization of seizures and epilepsies and modified it to benign familial infantile epilepsy (BFIE) as an electroclinical syndrome [
5]. At the same time, ILAE recommended the descriptive term ‘‘self-limited’’ instead of “benign” [
5]. According to new terminology and definitions of 2017 ILAE classification of the epilepsies, the term “benign” should be replaced by “Self-limited” or “pharmacoresponsive”, because the term “benign” underestimate the impact of epilepsy’s comorbidities on an individual’s life [
6]. At present, ILAE uses the term self-limited familial (and non-familial) infantile epilepsy [
7], “Self-limited” referred to the likely spontaneous resolution of a syndrome [
6]. In families with self-limited familial infantile epilepsy, some affected members may present paroxysmal choreoathetosis [
8]. Therefore, infantile convulsions with paroxysmal choreoathetosis (ICCA) syndrome was proposed to describe benign infantile epilepsy (BIE) and dyskinesia appeared successively in one individual or different affected individuals in one family. Most of them were motor evoked, alternatively, paroxysmal kinesigenic dyskinesia (PKD).
Great progress has also been made in the study of pathogenic genes in self-limited familial infantile epilepsy. Chen et al. [
9], using whole-exome sequencing followed by Sanger sequencing, identified that mutations within proline-rich transmembrane protein 2 (PRRT2) gene was related to PKD in Han Chinese families. Research also confirmed that more than 70% of children with self-limited familial infantile epilepsy and almost all patients with ICCA were related to PRRT2 gene mutations [
10]. At present, PRRT2 gene mutations were considered to be the main cause of self-limited familial infantile epilepsy, PKD and ICCA. Therefore, the concept of PRRT2-associated paroxysmal diseases was proposed based on gene linkage analysis and common clinical characteristics [
11]. Among different PRRT2 mutations, c.649dupC was so far the most common cause of self-limited familial infantile epilepsy [
12]. Herein, we report different experiences of two PRRT2-associated self-limited familial infantile epilepsy.