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PEHO syndrome
Known as:
Infantile cerebellooptic atrophy
, PEHO
, Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy
National Institutes of Health
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Related topics
Related topics
11 relations
Autosomal recessive inheritance
Global developmental delay
Hypoplasia of the corpus callosum
Myoclonus
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Broader (4)
Brain Edema
Neurodegenerative Disorders
Optic Atrophy
West Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
CLINICAL REPORT Neuroradiologic Features of CASK Mutations
J. Takanashi
,
H. Arai
,
+4 authors
N. Okamoto
2010
Corpus ID: 80614113
SUMMARY: Mutations of the CASK gene are associated with X-linked mental retardation with microcephaly and disproportionate brain…
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2010
2010
Perioperative management of a patient with PEHO-Syndrome : Delayed recovery of neuromuscular blockade after rocuronium
T. Birkholz
,
C. Knorr
,
Hans-Georg Topf
,
H. Köhler
,
A. Irouschek
,
Joachim W. Schmidt
2010
Corpus ID: 15731303
The PEHO syndrome (progressive encephalopathy with brain, facial and peripheral edema, hypsarrhythmia and optic atrophy) is a…
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2006
2006
PEHO syndrome: well described but easily missed
J. Kröll
,
R. Sälke-Kellermann
,
E. Martin
,
T. Huismann
,
E. Boltshauser
2006
Corpus ID: 80388807
1990
1990
Adatok a hypsarrhythmia evoluciójához
János Nikl
,
Ágnes Gombos
1990
Corpus ID: 147480659