Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG

Abstract Background Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous frameshift mutation in IMPA1, coding for the enzyme inositol monophosphatase 1 (IMPase), has recently been associated wit...

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Bibliographic Details
Main Authors: Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos, Raymond Y. Cho
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Inosotol monophosphatase
IMPA1
Electroencephalography
EEG
Oscillations
Online Access:http://link.springer.com/article/10.1186/s13023-018-0977-1

Internet

http://link.springer.com/article/10.1186/s13023-018-0977-1

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