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Hypothalamic atrophy of dentatorubral-pallidoluysian atrophy with epilepsy as the first symptom: A case report
[J]. Chinese Journal of Practical Pediatrics, 2021, 36(9): 706-709.
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One case report of Meier-Gorlin syndrome caused by CDC45 mutation
[J]. CJPP, 2021, 36(6): 478-480.
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Clinical features of epileptic encephalopathy caused by CASK gene variants
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One case of mental disorder combined with epilepsy caused by PPP2CA gene and the literature review
[J]. CJPP, 2021, 36(4): 318-320.
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Research progress in the diseases caused by NBAS gene mutation
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Interstitial lung diasese due to homozygous mutation of ABCA3 gene uniparental disomy in children: one case report
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Research advances in diagnosis and treatment of hyperinsulinemia-hyperammonemia syndrome
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Detection and clinical analysis of drug-resistant mutation sites in children with Mycoplasma infectious lobar pneumonia
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Clinical characteristics and gene mutation analysis of dopamine-responsive dystonia in children：A report of 6 patients
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Epilepsy as the main manifestation of inherited metabolic diseases
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Congenital hyperinsulinemia misdiagnosed as epilepsy
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Phenotype and prognosis study of fifteen patients with late-onset Dravet syndrome
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One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification
[J]. CJPP, 2020, 35(7): 571-573.
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Wolf-Hirschhorn syndrome in one case and the literature review
[J]. CJPP, 2020, 35(7): 574-576.
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One case report on mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
[J]. CJPP, 2020, 35(6): 493-496.
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