Summary:Purpose: Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome. Patients with borderline SMEI (SMEB) are a subgroup with clinical features similar to those of core SMEI but are not necessarily consistent with the accepted diagnostic criteria for core SMEI. The aim of this study was to delineate the genetic correlation between core SMEI and SMEB and to estimate the frequency of mutations in both phenotypes.Methods: We examined 96 healthy volunteers and 58 unrelated individuals whose clinical features were consistent with either core SMEI (n = 31) or SMEB (n = 27). We screened for genetic abnormalities within exons and their flanking introns of the genes encoding major subunits of the Na + channels (SCN1A, SCN2A, SCN1B, and SCN2B) by using a direct sequencing method.Results: In both core SMEI and SMEB, various mutations of SCN1A including nonsense and missense mutations were identified, whereas no mutations of SCN2A, SCN1B, and SCN2B were found within the regions examined. All mutations were heterozygous and not found in 192 control chromosomes. Mutations were identified in 26 (44.8%) of the 58 individuals and were more frequent (p < 0.05) in core SMEI (19 of 31) than in SMEB (seven of 27), as assessed by the continuity-adjusted χ 2 test. Mutations resulting in a molecular truncation were found only in core SMEI. Among the mutations, two missense mutations were found in both core SMEI and SMEB.Conclusions: Our findings confirm that SMEB is part of the SMEI spectrum and may expand the recognition of SMEI and suggest other responsible or modifying genes. Key Words: Autosomal dominant epilepsy with febrile seizures plus (ADEFS+)-Channelopathy-GABA A receptor-Generalized epilepsy with febrile seizures plus (GEFS+)-Ion channel.

Fifty-nine acute flaccid myelitis cases were reported nationwide, coincident with enterovirus D68 (EV-D68) outbreak from August to December 2015. Strong temporal association was noted, and EV-D68 was detected from some cerebrospinal fluid and blood specimens. Antiganglioside antibodies were identified in some patients, and prognostic factors were analyzed.

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The Glu815Lys genotype appears to be associated with the most severe AHC phenotype. Although AHC is not generally seen as a progressive disorder, it should be considered a disorder that deteriorates abruptly or in a stepwise fashion, particularly in patients with the Glu815Lys mutation.