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 , Allen Y Chen , Jennifer E Neil , Diane D Shao , Alisa Mo , Norma K Hylton , Stephanie DiTroia , Vijay S Ganesh , Richard S Smith , Katherine O'Kane , Rebecca C Yeh , Jack H Marciano , Samantha Kirkham , Connor J Kenny , Janet H T Song , Muna Al Saffar , Francisca Millan , David J Harris , Andrea V Murphy , Kara C Klemp , Stephen R Braddock , Harrison Brand ac Wong , Michael E Talkowski , Anne O'Donnell-Luria , Abbe Lai , Robert Sean Hill , Ganeshwaran H Mochida , Ryan N Doan , A James Barkovich , Edward Yang , Dina Amrom , Eva Andermann , Annapurna Poduri , Christopher A Walsh ; 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.
2023
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Shyam K Akula , Allen Y Chen , Jennifer E Neil , Diane D Shao , Alisa Mo , Norma K Hylton , Stephanie DiTroia , Vijay S Ganesh , Richard S Smith , Katherine O'Kane , Rebecca C Yeh , Jack H Marciano , Samantha Kirkham , Connor J Kenny , Janet H T Song , Muna Al Saffar , Francisca Millan , David J Harris , Andrea V Murphy , Kara C Klemp , Stephen R Braddock , Harrison Brand ac Wong , Michael E Talkowski , Anne O'Donnell-Luria , Abbe Lai , Robert Sean Hill , Ganeshwaran H Mochida , Ryan N Doan , A James Barkovich , Edward Yang , Dina Amrom , Eva Andermann , Annapurna Poduri , Christopher A Walsh ; Polymicrogyria Genetics Research Network; Renzo Guerrini
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1328272
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