Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

Keyphrases

• Macrocephaly 100%
• Portal Vein Thrombosis 100%
• Promoter mutation 100%
• Cerebral Venous Thrombosis 100%
• Atypical Absence Seizures 100%
• GPI Anchor 100%
• Prenatal Diagnosis 50%
• Rare Disorders 50%
• Unique Entities 50%
• Natural History 50%
• Targeted Treatment 50%
• Biosynthesis Pathway 50%
• Thrombotic Events 50%
• Absence Epilepsy 50%
• Infantile Onset 50%
• Congenital Disorders of Glycosylation 50%
• Phenotypic Spectrum 50%
• Heterogeneous Phenotype 50%
• Sodium Phenylbutyrate 50%
• Chronic Absence 50%

Biochemistry, Genetics and Molecular Biology

• Promoter Region 100%
• Phlebothrombosis 100%
• Inositol 100%
• Deficiency 100%
• Anabolism 33%
• Glycosylphosphatidylinositol 33%
• Congenital Disorder of Glycosylation 33%