Keyphrases
Brain Tissue
100%
Pathogenic Variants
100%
GNA11
100%
Phacomatosis pigmentovascularis
100%
Skin Tissue
60%
Life-threatening
20%
Clinical Features
20%
Proband
20%
Seizure
20%
Pathological Findings
20%
Imaging Findings
20%
Clinical Diagnosis
20%
Young Males
20%
Retrospective Chart Review
20%
Hypotonia
20%
Vasculature
20%
Brain Imaging
20%
Recurrent Episodes
20%
Global Developmental Delay
20%
Genetic Diagnosis
20%
Neurologic
20%
Melanocytes
20%
Leptomeningeal
20%
Status Epilepticus
20%
Brain Histopathology
20%
Posterior Quadrantectomy
20%
Cardiac Asystole
20%
Neurocutaneous
20%
Medicine and Dentistry
Somatics
100%
Brain Tissue
100%
Phakomatosis
100%
Histopathology
60%
Clinical Feature
20%
Epileptic Seizure
20%
Vascularity
20%
Heart Arrest
20%
Hypotonia
20%
Brain Imaging
20%
Developmental Delay
20%
Quadrantectomy
20%
Status Epilepticus
20%
Melanocyte
20%
Neuroscience
Somatics
100%
Phakomatosis
100%
Histopathology
75%
Hypotonia
25%
Brain Imaging
25%
Status Epilepticus
25%
Melanocyte
25%
Asystole
25%