Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Keyphrases

• Autosomal Recessive 100%
• Nuclear Localization Signal 100%
• Infantile Spasms 100%
• KPNA7 100%
• Cerebellar Malformation 100%
• Nuclear Transport Factors 100%
• Family Members 40%
• Importin 40%
• Amino Acid Substitution 40%
• Nuclear Transport Receptor 40%
• KPNA2 40%
• Binding Site 20%
• Whole Exome Sequencing 20%
• Retinoblastoma Protein 20%
• Compound Heterozygous mutation 20%
• Retinoblastoma 20%
• Human Disease 20%
• Intractable Epilepsy 20%
• Disease-associated 20%
• Exon 7 20%
• Sibling Pairs 20%
• Neurodevelopmental Disorders 20%
• Cerebellar Hypoplasia 20%
• Corpus Callosum Agenesis 20%
• Lennox-Gastaut Syndrome 20%
• Severe Developmental Disabilities 20%
• Armadillo Repeat 20%
• Partial Agenesis 20%

Biochemistry, Genetics and Molecular Biology

• Nuclear Localization Sequence 100%
• Nuclear Transport 100%
• Autosomal Recessive Inheritance 100%
• Karyopherin 40%
• Amino Acid Substitution 40%
• Importin 40%
• Binding Site 20%
• Crystal Structure 20%
• Wild Type 20%
• Exome Sequencing 20%
• Retinoblastoma Protein 20%
• Retinoblastoma 20%
• Nuclear Import 20%
• Exon 20%
• Paralogy 20%
• Armadillo Repeat 20%