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

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 with severe...

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Detalles Bibliográficos
Autores principales: Walker, Christopher P., Pessoa, Andre L. S., Figueiredo, Thalita, Rafferty, Megan, Melo, Uirá S., Nóbrega, Paulo R., Murphy, Nicholas, Kok, Fernando, Zatz, Mayana, Santos, Silvana, Cho, Raymond Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322245/
https://www.ncbi.nlm.nih.gov/pubmed/30616629
http://dx.doi.org/10.1186/s13023-018-0977-1

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