ObjectiveWe have summarized the clinical features of some refractory or genetically related children with epilepsy in clinical diagnosis and treatment and carried out the two generation of high-throughput gene sequencing and generation of verification on them. To analyze the relationship between mutant genes and epilepsy, to understand the genetic pattern of children and to look for possible pathogenic or disease causing mutation.MethodsEstablish a complete pedigree database for 95 children and their parents diagnosed in pediatric neurology clinic in our hospital from septeuber 2014 to Deceln ber 2016, and carry out gene testing on them by using two generation high-throughput gene sequencing. Then we have the analysis on the basis of clinical features and gene type in children.ResultsRefractory or genetically related children had a smaller age range and had a variety of clinical features. Most of them (47/95, 49.5%)needed two or more drugs for treatment; 28.4% of them was controlled which was about 27cases; 21.1% of them was effective which was about 20 cases; 33.7% of them was marked which was about 32 cases; 12.6% of them was of no effect which was about 12 cases; 4.2% of them was missed which was about 4 cases. a small number of children (18/95, 18.9%)had poor prognosis and accompanied with exercise and mental retardation. Genotype detection results: pathogenic genes of total 16 cases (16.8%)were cleared; there were about a total of 21 cases (22.1%)of possible pathogenic gene; there were about a total of 30 cases (31.6%)of non pathogenic gene; a total of 28 cases were not detected mutated gene which was about 29.5%.ConclusionsWe have found two new virulence gene of CASK and BRAF which had few reports in China and expanded the number of genes associated with neural development and epilepsy associated genes; the clinical characteristics of SCNIA gene mutations in Dravet syndrome were more serious which include earlier onset, frequent seizures and poor treatment effect; most children with specific causative genes required the combined use of two or more Anti-epileptic drugs, which has difficulties in treatme.
ObjectiveTo recognize the convulsion caused by hypoglycemia, and to analyze its genotype and clinical phenotype, so as to deepen the understanding of hyperinsulinemia.MethodFull exon detection were performed on 2 children with hypoglycemia and convulsions, who had been treated with antiepileptic drugs for 1 year in pediatric neurology department, Henan Provincial People’s Hospital in 2012 and 2014 respectively, but with poor curative effect.ResultABCC8 gene mutations were found in a child. The mutations located in Chromosome 11, with the nucleic acid changes of c.4607C>T (exon38) and the amino acid change of p.A1536V, rs745918247. The inheritancemode of ABCC8 gene could be autosomal dominant or autosomal recessive inheritance. Both of the parents were wild type on this genelocus. The gene mutation is associated with type 1 familial hyperinsulinemic hypoglycemia/nesidioblastosis. The other child was carrying GLUD1 gene mutation, witch is located in chromosome 10, with the nucleic acid changes of c.1498G>A (exon12) and the amino acid change of p.A500T. The inheritance mode of GLUD1 gene is autosomal dominant andthe child’s parents were both wild type. This gene mutationis associated with type 6 familial hyperinsulinemic hypoglycemia/nesidioblastosis. The 2 mutations have not been reported, which are new mutations.ConclusionMutations in these 2 gene loci may be the underlying cause of hypoglycemic convulsions, and are the best explanation for the poor convulsionscontrol of antiepileptic drugs.
ObjectiveTo investigate the clinical characteristics and genetic phenotype of mitochondrial myopathy associated with lactic acidemia and stroke-like seizure syndrome (MELAS) in DNA A3243G mutation, and to improve the clinical understanding and diagnosis.MethodsThe clinical data and imaging characteristics of 4 patients with DNA A3243G mutation-related MELAS syndrome who were diagnosed and treated in the Department of Pediatric Neurology, Henan Provincial People's Hospital from June 2017 to June 2018 were retrospectively reviewed.ResultsOf the 4 patients, 3 were caused by convulsions, 1 was caused by dizziness, and the MELAS syndrome caused by mitochondrial DNA A3243G mutation was confirmed by genetic testing. The patients were treated with anti-epilepsy drugs. The patients were followed up for at least 1 year, and 2 of 4 patients were stable, 1 patient still had seizures, and 1 patient did not improved.ConclusionsThe clinical phenotypic heterogeneity of patients with DNA A3243G mutation-related MELAS syndrome is caused by the " heterogeneity” and " threshold effect” of DNA mutation. The mutation rate of DNA A3243G is as high as 80%. In the era of promoting precision medicine, genes examination can help early diagnosis and early treatment of MELAS syndrome as well as improve the quality of life of patients and improve the prognosis.
ObjectiveTo analyze and summarize the clinical and video EEG (VEEG) characteristics of tuberous sclerosis (TSC) with epilepsy.MethodsClinical data of 30 children with TSC who met the revised diagnostic criteria of TSC in 2012 from Jan. 2016 to May 2019 in Zhengzhou Children’s Hospital were collected, including 29 children with epileptic seizures. The characteristics of skin lesions, imaging, seizures and long-term VEEG were analyzed retrospectively.ResultsThe mean age was (2.88 ± 2.64), 12 males and 18 females, 1 case of lumbar acid as the first symptom, 29 cases with epilepsy as the first symptom, the incidence of epilepsy is high, and the onset age is less than 1 year old; TSC can cause different degrees of cognitive impact; depigmentation or milk coffee spots are the most common skin changes in young children; TSC with infantile spasm has a high incidence; children younger than 10 years old may have lesions of other organs except nervous system lesions. However, the incidence of other organ lesions was relatively low. Most of TSC children with epilepsy were accompanied by abnormal EEG discharge.ConclusionThe clinical characteristics of TSC with epileptic seizures are various, and early diagnosis is of great significance.