PRICKLE1-related early onset epileptic encephalopathy [PDF]
, 2018 The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S +5 more
core +1 more source
Ketamine and Agenesis of the Corpus Callosum
Survey of Anesthesiology, 1979 Ketamine did not provide adequate anaesthesia for pneumoencephalography in a 10-week-old child with agenesis of the corpus collosum. Associated neurological defects are the most likely reason for this failure.
openaire +2 more sources
Epilepsy in Chinese Children With Mowat–Wilson Syndrome: Two Case Reports and Literature Review
Journal of Paediatrics and Child Health, EarlyView.
Xuelin Huang +6 more
wiley +1 more source
Callosal Agenesis and Interhemispheric Cysts
Pediatric Neurology Briefs, 2001 Imaging studies of 25 cases of agenesis of the corpus callosum with interhemispheric cyst were retrospectively reviewed at the University of California, San Francisco, and Harvard Medical School, Boston.
J Gordon Millichap
doaj +1 more source
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]
, 2018 Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del +7 more
core +2 more sources
Agenesis of the Corpus Callosum [PDF]
Postgraduate Medical Journal, 1965 J N, HARCOURT-WEBSTER, J H, RACK
openaire +2 more sources
Corpus Callosum Agenesis and Osseous Lesions
Pediatric Neurology Briefs, 1993 A new mental retardation syndrome with agenesis of the corpus callosum and unusual bone changes is reported from the Departments of Radiology and Neurology, Royal Alexandra Hospital for Children, Camperdown, Sydney, NSW, Australia.
J Gordon Millichap
doaj +1 more source
Complete agenesis of corpus callosum with a rare neuropsychiatric presentation: A case report. [PDF]
Radiol Case Rep, 2023 Ghavipisheh M +3 more
europepmc +1 more source
Emotional arousal in agenesis of the corpus callosum [PDF]
, 2006 While the processing of verbal and psychophysiological indices of emotional arousal have been investigated extensively in relation to the left and right cerebral hemispheres, it remains poorly understood how both hemispheres normally function together to
Adolphs, Ralph +6 more
core +1 more source
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy. [PDF]
Neurol Genet, 2022 Licchetta L +7 more
europepmc +1 more source