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Article in Chinese | WPRIM | ID: wpr-930455


Clinical data of a case with early-onset epileptic encephalopathy admitted in the Department of Neuroendocrinology, Jinan Children′s Hospital in April 2020 were retrospectively analyzed.A 1-month-old male patient was hospitalized for convulsion for 4 days.The child had repeated seizures in the form of tonic and tonic-spasm seizures, accompanied by feeding difficulties, slow weight gain, and overall developmental delay.Electroencephalogram showed multifocal discharge, atypical hypsarrhythmia, and brain magnetic resonance imaging showed delayed myelination.The whole exome sequencing showed compound heterozygous mutation of the WWOX gene.Topiramate, Levetiracetam and Valporate were ineffective to this case.Genetic testing should be performed timely in patients with early-onset epileptic encephalopathy and overall developmental delay to make a clear etiology and prognosis, thus guiding prenatal diagnostics and genetic counseling.

Article in Chinese | WPRIM | ID: wpr-882773


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.

Article in Chinese | WPRIM | ID: wpr-826511


OBJECTIVE@#To investigate the clinical and genetic features of a Chinese girl featuring mental retardation, intellectual disability, language development delay and epilepsy.@*METHODS@#G-banded chromosomal karyotyping was carried out for the child. Genomic DNA of the patient and her parents was extracted and subjected to high-throughput sequencing. The results were analyzed with bioinformatic tools and validated by Sanger sequencing.@*RESULTS@#The karyotype of the child was ascertained as 46,XX. Sequencing result showed that she has carried a de novo heterozygous c.1861C>T (p.R621X) variant of the SYNGAP1 gene.@*CONCLUSION@#The nonsense variant c.1861C>T (p.R621X) of the SYNGAP1 gene probably underlies the disease in this child. Above result has enabled genetic diagnosis and counseling for her family.

Article in Chinese | WPRIM | ID: wpr-827730


OBJECTIVE@#To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy.@*METHODS@#Clinical data of the patient was collected. Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing. Pathogenicity of the variant was predicted and validated.@*RESULTS@#Sequencing results showed that the patient has carried a de novo c.1470delA (p.V491Ffs*6) variant of the UBE3A gene, which was predicted to be pathogenic.@*CONCLUSION@#The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.

Article in Chinese | WPRIM | ID: wpr-772010


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.

Child , Diabetes Mellitus, Type 2 , Ectodermal Dysplasia , Genetics , Guanine Nucleotide Exchange Factors , Genetics , Humans , Limb Deformities, Congenital , Genetics , Mutation , Pedigree , Scalp Dermatoses , Genetics