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Purpose: This study aimed to identify disease-causing gene mutations in individuals belonging to the Southern Chinese Han population diagnosed with fever-associated seizures or epilepsy (FASE).Methods: Blood samples and clinical data were collected from 78 children with FASE. All subjects were screened for mutations using whole-exome sequencing, and mutations were validated using the Sanger sequencing method.Results: Three novelSCN9A heterozygous missense mutations (I775M, R429C and A442T) were noted, which are associated with febrile seizures (FS), febrile seizures plus (FS+) and genetic epilepsy with febrile seizures plus (GEFS+), respectively. The R429C and A442T mutations are located in the large cytoplasmic loop between transmembrane topological domains, whereas I775M is located in the topological domain DIIS2. The I775M and R429C mutations have highly evolutionarily conserved residues and are predicted to affect the SCN9A protein function according to bioinformatics tools. These three mutations were not identified in 300 unrelated control subjects.Conclusions: Mutations in theSCN9A gene may be linked with FASE. [ABSTRACT FROM AUTHOR]

Objective To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). Methods Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. Results No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls. Conclusions No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population. [ABSTRACT FROM AUTHOR]

Idiopathic pulmonary hemosiderosis (IPH) is an extremely rare cause of massive pulmonary hemorrhage in children. During the acute phase, death due to massive alveolar hemorrhage and subsequent severe respiratory failure. We report two cases of IPH children who developed hypoxemic respiratory failure and massive pulmonary hemorrhage. One case of a 10-year-old boy was treated with methylprednisolone pulse therapy (10mg/kg/d) for the first three days and followed by systemic steroid therapy, he successfully decannulated 10days later and discharged with a favorable quality of life. Another case of a 4year-old female child with Down's syndrome diagnosed as IPH for over one year and treated with oral corticosteroids for maintenance therapy. She sudden suffered severe hypoxemia with rapid falls in the hemoglobin level. We applied methylprednisolone pulse therapy (10mg/kg/d) for three days and other supportive therapies, the girl survived through complicated with oxygen dependence. We suggest that methylprednisolone pulse therapy provides a chance of recovery and survival for patients with IPH at the acute phase, even if accompanied by severe pulmonary hemorrhage. [ABSTRACT FROM AUTHOR]