PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

BACKGROUND: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The mole...

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Pubblicato in:Pediatr Neurol
Autori principali: Gawlinski, Pawel, Posmyk, Renata, Gambin, Tomasz, Sielicka, Danuta, Chorazy, Monika, Nowakowska, Beata, Jhangiani, Shalini N., Muzny, Donna M., Bekiesinska-Figatowska, Monika, Bal, Jerzy, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Wiszniewski, Wojciech
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5125779/
https://ncbi.nlm.nih.gov/pubmed/27343026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2016.03.011
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