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Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29.
Epilepsia. 2024.
PMID: 38135915
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1.
Mei D, Parrini E, Bianchini C, Ricci ML, Guerrini R.
Mei D, et al.
Am J Med Genet C Semin Med Genet. 2023 May 3. doi: 10.1002/ajmg.c.32044. Online ahead of print.
Am J Med Genet C Semin Med Genet. 2023.
PMID: 37132416
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