Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report

Keyphrases

• Splice Variant 100%
• Whole Exome Sequencing 100%
• Sanger Sequencing 100%
• Biallelic Variants 100%
• PCR-sequencing 100%
• Porencephaly 100%
• Cerebral Small Vessel Disease (cSVD) 100%
• Refractory Epilepsy 50%
• Frameshift 50%
• Quantitative PCR 50%
• Autosomal Recessive 50%
• Ultrasound 50%
• Biallelic 50%
• Pathogenic Variants 50%
• Sequence Data 50%
• Severe Phenotype 50%
• Child Self-report 50%
• Hydrocephalus 50%
• Lymphocyte Culture 50%
• Cryptic Splice Site 50%
• In-frame Deletion 50%
• Homozygous Variant 50%
• Spastic Quadriplegia 50%
• Severe Developmental Delay 50%
• Mis-splicing 50%

INIS

• patients 100%
• genes 100%
• congenital diseases 100%
• diseases 66%
• brain 66%
• children 66%
• vessels 66%
• messenger-rna 66%
• pcr 66%
• data 33%
• nmr imaging 33%
• epilepsy 33%
• refractories 33%
• phenotype 33%
• lymphocytes 33%
• transcription 33%
• hydrocephalus 33%

Biochemistry, Genetics and Molecular Biology

• Messenger RNA 100%
• Sanger Sequencing 100%
• Exome Sequencing 100%
• Autosomal Recessive Inheritance 50%
• Polymerase Chain Reaction 50%
• Reverse Transcription Polymerase Chain Reaction 50%
• Lymphocyte Culture 50%