Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or as part of syndromic diseases. Past studies of polymicrogyria have defined heterogeneous genetic and nongenetic causes but have explained only a small fraction of cases.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria / Shyam K Akula, A.Y.C., Polymicrogyria Genetics Research Network, Renzo Guerrini. - In: JAMA NEUROLOGY. - ISSN 2168-6149. - ELETTRONICO. - ...:(2023), pp. 0-0. [10.1001/jamaneurol.2023.2363]
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Renzo Guerrini
2023
Abstract
Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or as part of syndromic diseases. Past studies of polymicrogyria have defined heterogeneous genetic and nongenetic causes but have explained only a small fraction of cases.
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