Biallelic Mutations in ADAM22 Presenting as Ohtahara Syndrome in an Indian Family: Expanding the Electroclinical Phenotype of ADAM22 -Related Neurologic Disorder.
作者信息
Panda Prateek Kumar, Palayullakandi Achanya, Gupta Diksha, Sopanam Suthiraj, Mishra Anand Santosh, Sharawat Indar Kumar
机构信息
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
出版信息
Ann Indian Acad Neurol. 2025 Mar 1;28(2):282-284. doi: 10.4103/aian.aian_706_24. Epub 2025 Jan 8.
Abstract
摘要
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本文引用的文献
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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116.
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14-3-3 proteins stabilize LGI1-ADAM22 levels to regulate seizure thresholds in mice.
Cell Rep. 2021 Dec 14;37(11):110107. doi: 10.1016/j.celrep.2021.110107.
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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.
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Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Epilepsy Res. 2007 Aug;76(1):41-8. doi: 10.1016/j.eplepsyres.2007.06.014. Epub 2007 Aug 6.
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Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission.
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