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1.
Article in Chinese | WPRIM | ID: wpr-882773

ABSTRACT

The data of a child with early-onset epileptic encephalopathy in Qilu Children′s Hospital of Shandong University in February 2020 were analyzed retrospectively.The child was a 4-month-old girl, who was admitted to the hospital because of " repeated convulsions for 4 months and feeding difficulty for 1 month" at the age of 4 months.The patient suffered from epilepsy 1 day after birth, and the epilepsy type was tonic seizures.Severe developmental retardation was observed in the patient.Electroencephalogram showed multifocal discharge, which then turned to hypsarrhythmia.The cranial imaging was negative.Feeding difficulty occurred at the age of 3 months.The genetic testing revealed a de novo heterozygous missense mutation in the FGF12 gene (Arg114His). Various antiepileptic drugs and ketogenic diet were ineffective.There was no attack in 2 months after adding Phenytoin.The child could eat on her own after seizure control, but there was no progress in intellectual and motor development.Mutations in the FGF12 gene lead to poor prognosis of early-onset epileptic encephalopathy, and the seizures are difficult to control.Sodium ion channel blockers such as Phenytoin should be used as soon as possible.

2.
Article in Chinese | WPRIM | ID: wpr-781279

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of a girl featuring epilepsy, speech delay and mild mental retardation.@*METHODS@#Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted and subjected to next generation sequencing. Suspected variant was confirmed by Sanger sequencing.@*RESULTS@#The child was found to carry a de novo heterozygous c.3592G>A (p.V1198M) variant of the SMARCA2 gene, which was predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.

3.
Article in Chinese | WPRIM | ID: wpr-826513

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child suspected for hypokalemic periodic paralysis.@*METHODS@#Clinical data of the patient was collected, and venous blood samples were taken from the patient and his parents for the extraction of genomic DNA. Next generation sequencing (NGS) with target capture was carried out to detect potential variants. Suspected variants were validated by Sanger sequencing.@*RESULTS@#The child developed fatigue without obvious reason at the age of 15. Laboratory test revealed hypokalemia but normal serum magnesium. Genetic testing discovered that he has carried two variants in the SLC12A3 gene, namely c.179C>T and c.539C>A. The patient was diagnosed with Gitelman syndrome.@*CONCLUSION@#For children with hypokalemia, genetic testing should be considered for the differential diagnosis of Gitelman syndrome from hypokalemia due to other causes.

4.
Article in Chinese | WPRIM | ID: wpr-775797

ABSTRACT

OBJECTIVE@#To explore the genetic cause for a child with growth retardation by next generation sequencing (NGS).@*METHODS@#Clinical data of the patient was collected. Peripheral venous blood samples were taken from the neonate and his parents. Targeted capturing and NGS were carried out to detect mutations of genes associated with inborn errors of metabolism. Suspected mutations were validated by Sanger sequencing.@*RESULTS@#The 15-month-old female patient was admitted to hospital for growth retardation for 4 months. Hypomyelination was found upon cranium MRI. Genetic testing revealed two novel insertional mutations in the GLB1 gene in the patient, namely c.2006-2007insT and c.475-476 insGGTCC.@*CONCLUSION@#The c.2006-2007insT and c.475-476 insGGTCC mutations of the GLB1 gene probably underlie the GM1 gangliosidosis resulting in the growth retardation in the child.


Subject(s)
Female , Gangliosidosis, GM1 , Genetics , Humans , Infant , Infant, Newborn , Mutation , Pedigree , beta-Galactosidase , Genetics
5.
Article in Chinese | WPRIM | ID: wpr-772010

ABSTRACT

OBJECTIVE@#To detect pathogenic mutation of DOCK6 gene in a patient with convulsive seizure and refractory epilepsy.@*METHODS@#CytoScan HD-Array and next generation sequencing were used to detect the potential mutation in the patient.@*RESULTS@#The proband has carried compound heterozygous mutations of c.188C>T (p.Arg63Gln) and c.5374C>T (p.Glu1792Lys) of the DOCK6 gene, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatic analysis indicated that the two amino acids are highly conserved. Based on the ACMG guidelines, the c.188C>T mutation was predicted to be likely pathogenic, while the c.5374C>T mutation was of uncertain significance.@*CONCLUSION@#The compound heterozygous mutations of c.188C>T (p.Arg63Gln) and c.5374C>T (p.Glu1792Lys) of the DOCK6 gene probably underlie the disease in this patient.


Subject(s)
Child , Diabetes Mellitus, Type 2 , Ectodermal Dysplasia , Genetics , Guanine Nucleotide Exchange Factors , Genetics , Humans , Limb Deformities, Congenital , Genetics , Mutation , Pedigree , Scalp Dermatoses , Genetics
6.
Article in Chinese | WPRIM | ID: wpr-665757

ABSTRACT

Acute necrotizing encephalopathy (ANE)is a rare type of acute encephalopathy which occurs secondary to virus infection. Individuals who suffer from ANE usually have an exaggerated immune response to various viral infections. The pathologic change is focal vascular injury which leads to destruction of the blood - brain barrier and vascular permeability that cause brain edema,petechial hemorrhage,and necrosis. The imageological changes of ANE have diagnostic significance which show multifocal,symmetric brain lesions including bilateral thalamus 100% invol-ving. Intravenous glucocorticoids,immunoglobulin,and plasmapheresis should be effective for treatment.

7.
Article in Chinese | WPRIM | ID: wpr-586072

ABSTRACT

Objective:To investigate the chronic effect of topiramate on spatial learning and memory to young rats. Methods:P28 KA-induced rats were used. After 8-week treatment of topiramate, spontaneous recurrent seizures were recorded; Spatial learning and memory ability was evaluated by Morris water maze. Results: TPM-treated rats had significantly fewer(3.50?3.84) spontaneous recurrent seizures than rats without TPM treatment(7.36?3.75). On the first day of Morris water maze, they also had statistically longer latency to the platform(590.6?230.9 s) than those from the group without TPM treatment (422.6?122.3 s), but no latency differences were found in the following three days. TPM had no effect on water maze performance to rats without KA induction. After three days of interval, no differences were found in all groups under the same experimental situation.Conclusion:For developing rat brain, TPM has no impairment on the ability of long-term memory and information retrieval meanwhile its negative effect on spatial learning is temporary.

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