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Nieto-Estevez et al., 2024 - Google Patents

Dual effects of ARX poly-alanine mutations in human cortical and interneuron development

Nieto-Estevez et al., 2024

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Document ID
9799358332057492800
Author
Nieto-Estevez V
Varma P
Mirsadeghi S
Caballero J
Gamero-Alameda S
Hosseini A
Silvosa M
Thodeson D
Lybrand Z
Giugliano M
Navara C
Hsieh J
Publication year
Publication venue
bioRxiv

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Infantile spasms, with an incidence of 1.6 to 4.5 per 10,000 live births, are a relentless and devastating childhood epilepsy marked by severe seizures but also leads to lifelong intellectual disability. Alarmingly, up to 5% of males with this condition carry a mutation in the …
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