Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

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Title
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
Authors
Keywords
AKT3, Hypoglycemia, Ketogenic diet, MPPH/MCAP
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 114, Issue 3, Pages 467-473
Publisher
Elsevier BV
Online
2014-12-06
DOI
10.1016/j.ymgme.2014.11.018

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