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Background Epilepsy is a chronic episodic brain disorder with a high incidence and can seriously affect the quality of life of the patients. Therefore, timely treatment to control seizures is particularly important. Numerous studies have shown the effect of antiepileptic drugs on cognition, but there are few studies on the effects of different functional areas in children. Objective To explore the effects of sodium valproate (VPA) , oxcarbazepine (OXC) and levetiracetam (LEV) on the development of different functional areas in children with focal epilepsy by Griffiths Development Scales-Chinese Edition (GDS-C) . Methods A total of 83 children with focal epilepsy who attended in outpatient and ward of the Department of Pediatric Neurology of the Third Affiliated Hospital of Zhengzhou University for the first time from January 2021 to April 2022 were selected, and randomly divided into VPA group (n=27) , OXC group (n=28) and LEV group (n=28) according to the random number table method, 30 healthy children who were examined during the same period were selected as the control group. The changes of EEG interictal epileptiform activity (IEA) before and after 6 months of treatment were recorded and the clinical effect was evaluated according to seizure frequency, the GDS-C was used to evaluate the development quotient of each functional area in the children. Results The total clinical effective rates of VPA group, OXC group and LEV group were 92.6%, 89.3% and 92.9%, with no significant difference among the three groups (χ2=0.418, P=1.000) . The total EEG IEA effective rate of the VPA group, OXC group and LEV group were 88.9%, 57.1% and 89.3%, with significant differences among the three groups (χ2=11.152, P=0.004) ; the total effective rate of EEG IEA in OXC group was lower than that in VPA group and LEV group (P

Objective: Defects in RARS2 cause cerebellopontine hypoplasia type 6 (pontocerebellar hypoplasia type 6, PCH6, OMIM: #611523), a rare autosomal recessive inherited mitochondrial disease. Here, we report two male patients and their respective family histories. Methods: We describe the clinical presentation and magnetic resonance imaging (MRI) findings of these patients. Whole‐exome sequencing was used to identify the genetic mutations. Results: One patient showed hypoglycemia, high lactic acid levels (fluctuating from 6.7 to 14.1 mmol/L), and frequent seizures after birth, with progressive atrophy of the cerebrum, cerebellum, and pons. The other patient presented with early infantile developmental and epileptic encephalopathies (EIDEEs) with an initial developmental delay followed by infantile epileptic spasm syndrome (IESS) at 5 months old, with no imaging changes. Whole‐exome sequencing identified compound heterozygous RARS2 variants c.25A>G (p.I9V) with c.1261C>T (p.Q421*) and c.1A>G (p.M1V) with c.122A>G (p.D41G) in these two patients. Of these loci, c.1261C>T and c.122A>G have not been previously reported. Significance: Our findings have expanded the RARS2 gene variant spectrum and present EIDEEs and IESS as phenotypes which deepened the association between PCH6 and RARS2. Plain Language Summary: Defects in RARS2 cause cerebellopontine hypoplasia type 6, a rare autosomal recessive inherited mitochondrial disease. Two patients with RARS2 variants were reported in this article. One patient showed hypoglycemia, high lactic acid levels, and frequent seizures after birth, with progressive atrophy of the cerebrum, cerebellum, and Page 3 of 21 Epilepsia OpenFor Review Only pons. The other patient presented with an initial developmental delay followed by refractory epilepsy at 5 months old, with no imaging changes. Our findings deepened the association between PCH6 and RARS2. [ABSTRACT FROM AUTHOR]

Objective: To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome., Methods: The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents., Results: Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia. Both children were found to harbor de novo heterozygous variants of the CHD7 gene, namely c.4015C>T (exon 17) and c.5050G>A (exon 22). Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were rated as pathogenic variants, and the related disease was CHARGE syndrome. Furthermore, child 2 was also found to harbor a novel heterozygous c.6161A>C (p.Gln2054Pro) missense variant of COL12A1 gene, which was rated as possibly pathogenic, and the associated disease was Bethlem myopathy type 2, which is partially matched with the patient' s clinical phenotype., Conclusion: The special clinical phenotypes shown by the two children harboring novel CHD7 variants have further expanded the phenotypic spectrum of CHARGE syndrome.