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Objective: This study aims to comprehensively analyze the clinical characteristics and identify the differentially expressed genes associated with drug‐resistant epilepsy (DRE) in patients with focal cortical dysplasia (FCD). Methods: A retrospective investigation was conducted from July 2019 to June 2022, involving 40 pediatric cases of DRE linked to FCD. Subsequent follow‐ups were done to assess post‐surgical outcomes. Transcriptomic sequencing and quantitative reverse transcription polymerase chain reaction (qRT‐PCR) were used to examine differential gene expression between the FCD and control groups. Results: Among the 40 patients included in the study, focal to bilateral tonic–clonic seizures (13/40, 32.50%) and epileptic spasms (9/40, 22.50%) were the predominant seizure types. Magnetic resonance imaging (MRI) showed frequent involvement of the frontal (22/40, 55%) and temporal lobes (12/40, 30%). In cases with negative MRI results (13/13, 100%), positron emission tomography/computed tomography (PET‐CT) scans revealed hypometabolic lesions. Fused MRI/PET‐CT images demonstrated lesion reduction in 40.74% (11/27) of cases compared with PET‐CT alone, while 59.26% (16/27) yielded results consistent with PET‐CT findings. FCD type II was identified in 26 cases, and FCD type I in 13 cases. At the last follow‐up, 38 patients were prescribed an average of 1.27 ± 1.05 anti‐seizure medications (ASMs), with two patients discontinuing treatment. After a postoperative follow‐up period of 23.50 months, 75% (30/40) of patients achieved Engel class I outcome. Transcriptomic sequencing and qRT‐PCR analysis identified several genes primarily associated with cilia, including CFAP47, CFAP126, JHY, RSPH4A, and SPAG1. Significance: This study highlights focal to bilateral tonic–clonic seizures as the most common seizure type in patients with DRE due to FCD. Surgical intervention primarily targeted lesions in the frontal and temporal lobes. Patients with FCD‐related DRE showed a promising prognosis for seizure control post‐surgery. The identified genes, including CFAP47, CFAP126, JHY, RSPH4A, and SPAG1, could serve as potential biomarkers for FCD. Plain Language Summary: This study aimed to comprehensively evaluate the clinical data of individuals affected by focal cortical dysplasia and analyze transcriptomic data from brain tissues. We found that focal to bilateral tonic–clonic seizures were the most prevalent seizure type in patients with drug‐resistant epilepsy. In cases treated surgically, the frontal and temporal lobes were the primary sites of the lesions. Moreover, patients with focal cortical dysplasia‐induced drug‐resistant epilepsy exhibited a favorable prognosis for seizure control after surgery. CFAP47, CFAP126, JHY, RSPH4A, and SPAG1 have emerged as potential pathogenic genes for the development of focal cortical dysplasia. [ABSTRACT FROM AUTHOR]

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]

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A novel and versatile approach to the preparation of multitype polymers brushes on the quantum dots surface is reported. In this method, an azo initiator is first immobilized covalently onto CdSe/CdS particle surface by reacting with the 4,4′-Azobis (4-cyanovaleric acid) through an ester linkage. CdSe/CdS nanoparticles with polymer brushes (CdSe/CdS-polymers) of different properties, including hydrophilic polyacrylamide, poly(acrylic acid), and poly(vinyl pyrrolidone); hydrophobic oleophilic poly(vinyl acetate), poly(methyl acrylate), and poly(methyl methacrylate); polystyrene with conjugate group; and polyacrylonitrile with strong polarity group, are synthesized by one approach (the surface-initiated radical poly­merization technique), respectively. The structures and properties of CdSe/CdS-polymers reveal that the CdSe/CdS-azo initiator has excellent ability to initiate various kinds of vinyl monomers and these synthetic CdSe/CdS-polymers exhibit good stability and can emit multiple colors from the emission 405 to 569 nm. Moreover, CdSe/CdS-polymers brushes show characteristic micromorphologies. Such strategy provides a platform to achieve nanocomposites with different properties by a new CdSe/CdS-azo initiator through the simple conventional radical polymerization technique. Besides, the synthetic approach gives access to multitype modification of different nanoparticles with polymers. [ABSTRACT FROM AUTHOR]