ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA

Huang, Dishu; Song, Xiaojie; Ma, Jianjun; Li, Xiujuan; Guo, Yi; Li, Mei; Luo, Hanyu; Fang, Zhixu; Yang, Chunxu; Xie, Lingling; Jiang, Li

doi:10.1007/s00431-022-04744-w

Cited by 3 publications

(2 citation statements)

References 46 publications

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“…This study was approved by the CHCMU Ethics Committee. The targeted NGS was performed following previously reported experimental procedures (7). The average sequencing depth of the WES was 123.810.…”

Section: Next-generation Sequencing (Ngs)mentioning

confidence: 99%

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Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature Review

Meng

Huang

Xie

et al. 2023

Preprint

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Purpose This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature on the 43 reported cases. Methods This patient was registered at the Children’s Hospital of Chongqing Medical University. A pathogenic ROGDI variant was identified using trio whole exome sequencing (trio-WES). The patient’s symptoms and treatments were recorded in detail, and the patient was monitored for six years. 43 cases of ROGDI-related KTS were retrieved. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER. Results The patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46 − 37_46-30delGGCGGGGC). The MRI and VEEG were normal. The efficacy of perampanel (PMP) in treating seizures and developmental retardation was apparent. Conclusion Our study presented the first case of ROGDI-related KTS in the Chinese population, which added to the existing knowledge of this spectrum disorder. Clinicians may contemplate PMP therapy for KTS patients with epilepsy. Co-occurring conditions of KTS included attention deficit hyperactivity disorder (ADHD), suspected autism spectrum disorder (ASD), and self-harm behaviors.

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Section: Next-generation Sequencing (Ngs)mentioning

confidence: 99%

“…Amino acid sequence alignment was performed using Genedoc software (https://github.com/karlnicholas/GeneDoc) for conservative analysis. Then we used spliceAI and MutationTaster to predict the pathogenicity of the variants (7).…”

Section: Sanger Sequencingmentioning

confidence: 99%

Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature Review

Meng

Huang

Xie

et al. 2023

Preprint

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Multiple drugs

2023

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Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review

Meng,

Huang,

Xie

et al. 2023

BMC Med Genomics

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Purpose This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases. Methods This patient was registered at the Children’s Hospital of Chongqing Medical University. The patient’s symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI. These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER. Results This is the first case report of KTS in China. Our patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46-37_46-30del). The brain magnetic resonance imaging (MRI) and video electroencephalogram (VEEG) were normal. The efficacy of perampanel (PMP) in treating seizures and intellectual disability was apparent. Furthermore, 43 cases of ROGDI-related KTS were retrieved. 100% exhibited epilepsy, global developmental delay, and amelogenesis imperfecta. 17.2% received a diagnosis of attention deficit hyperactivity disorder (ADHD), and 3.4% were under suspicion of autism spectrum disorder (ASD). Language disorders were observed in all patients. Emotional disorders, notably self-harm behaviors (9.1%), were also reported. Conclusion ROGDI-related KTS is a rare neurodegenerative disorder, characterized by three classic clinical manifestations: epilepsy, global developmental delay, and amelogenesis imperfecta. Moreover, patients could present comorbidities, including ADHD, ASD, emotional disorders, and language disorders. PMP may be a potential drug with relatively good efficacy, but long-term clinical trials are still needed.

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ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA

Cited by 3 publications

References 46 publications

Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature Review

Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature Review

Multiple drugs

Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review

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