Objective To research the clinical characteristics and the arysulfatase A(ARSA) gene screening inafamily withametachromatic leukodystrophy and epilepsy child. Methods Clinical data were collected and ARSA gene were tested by PCR and Sanger sequencing in the pedigree． Results Two mutations in exon 2 of ARSA gene was identified in the proband includingaknown heterozygous missense mutation c.293C>T which was also found in his mother andanovel frameshift mutation c.302de1G. None of them was found in the proband’s brother. Conclusion The intractable epilepsy of the proband was related to his metachromatic leukodystrophy. Andanew frameshift mutation c.302delG was found in his ARSA gene, which haven’t reported around the world yet. Combined with the patient’s typical late infantile presentation, we speculated that the frameshift mutation c.302delG may be the cause of MLD.
ObjectiveThe aim of this study was to understand the relationship between IQ and glucose metabolism in brain cells in a wide variety of epilepsy subjects. MethodsThe study participants were 78 children with epilepsy and 15 healthy children for comparison. All participants were administered the Chinese Wechsler Intelligence Scale for Children (C-WISC). The verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and full scale intelligence quotient (FIQ) were compared between epileptic children and typically developing children. 78 patients underwent interictal positron emission computed tomography (PET) using 2-deoxy-2[18F]fluoro-D-glucose (FDG) as the tracer for evaluating brain glucose metabolism. ResultsVIQ, PIQ and FIQ based on the C-WISC were significantly lower in epileptic children than those in the healthy comparison group (P < 0.001, P=0.001 and P < 0.001, respectively). The IQ of patients with normal metabolism, unifocal abnormal hypometabolism and multifocal abnormal hypometabolism determined by PET differed significantly. The extent of the abnormal hypometabolism was negatively correlated with the FIQ (rs=-0.549, P < 0.001). In patients with lateralized hypometabolism based on PET, the VIQ/PIQ discrepancy (︱VIQ-PIQ︱≥15 points)scores differed significantly between the left hemisphere abnormal hypometabolism and right hemisphere abnormal hypometabolism subgroups, being negative values in the left and positive values in the right subgroups(P=0.004). ConclusionsBrain metabolic abnormalities are correlated with IQ, and perfoming interictal PET along with C-WISC can better assess the extent of severity of cognitive impairment and VIQ/PIQ discrepancy.
ObjectiveTo study the relation between the clinical phenotype and neurological developmental quotient in children with epilepsy and GPR98 gene mutation. MethodsGenomic DNA was extracted from peripheral blood lymphocytes of the probands and other available members in the epilepsy families.Clinical datas and screened for mutations by next-generation sequencing conbined target sequencing technology and PCR and direct DNA sequencing were collected.Then, the relations between the clinical phenotype and developmental quotient in children with epilepsy and GPR98 gene mutation was analyzed. ResultsSeven novel GPR98 gene mutations were found in seven probands in 65 families, including six heterozygote missense mutations (c.6083C <、c.1969A < C、c.17531C < T、c.9069G < C、c.6661G < A and c.18496A < C) and one nonsense mutation (c.14224G < T). One of their parents carried the same GPR98 gene mutation as the proband's. The initial symptom of six cases was afebrile seizures and one showed febrile seizure, in which the main type seizure was generalized seizure.Moreover, was were significant difference between children with epilepsy and GPR98 gene mutations and healthy children in developmental quotient test(P < 0.01). ConclusionsThe main type of seizures in children with epilepsy and GPR98 gene mutations is generalized seizure. Furthermore, GPR98 gene mutations may be associated with psychomotor retardation.