[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases].

Objective: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE).

Methods: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents.

Results: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother.

[Mutational analysis of MYO1E in Chinese children with familial steroid-resistant nephrotic syndrome].

Objective: Steroid-resistant nephrotic syndrome (SRNS) with MYO1E mutations has been identified as autosomal recessive focal segmental glomerulosclerosis (FSGS). To date, only two homozygous mutations in the MYO1E gene were reported in three families with FSGS. This study aimed to examine mutations in the MYO1E gene in children with familial SRNS in the Han Chinese ethnic group.

[Pathological changes in the epileptogenic foci of children with intractable epilepsy].

Objective: To investigate pathological changes in the epileptogenic foci of children with intractable epilepsy and their clinical significance.

Methods: Thirty children with intractable epilepsy were included in the study. The epileptogenic foci were surgically resected and pathological changes in the obtained specimens were observed under a light microscope (LM) and a transmission electron microscope (TEM).

[Treatment of hemolytic uremic syndrome after acute stage].

Objective: Hemolytic uremic syndrome (HUS) is a common primary disease that can cause acute renal failure in childhood. Renal disease is the most important long-term complication in patients who survived the acute stage of HUS. Use of angiotensin-converting enzyme inhibitors (ACEI) and a restricted protein intake may be beneficial to the patients.