Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

Keyphrases

• Frameshift mutation 100%
• Coding Region 100%
• PANK2 mutation 100%
• Turkish Patients 100%
• Pantothenate Kinase-associated Neurodegeneration 100%
• Molecular Confirmation 100%
• Dementia 20%
• Magnetic Resonance Imaging 20%
• Patient's Will 20%
• Parkinsonism 20%
• Molecular Genetics 20%
• Molecular Diagnostics 20%
• Turkey 20%
• Founder Effect 20%
• Molecular Investigation 20%
• Rare Diseases 20%
• Disease-causing mutations 20%
• Neurodegenerative 20%
• Dystonia 20%
• Genetic Confirmation 20%
• Imaging Investigations 20%
• Neuroimaging Findings 20%
• Turkish Origin 20%
• Pyramidal Features 20%
• Clinical Neuroimaging 20%
• Prenatal Genetic Testing 20%
• Prenatal Genetic Counseling 20%
• Molecular Findings 20%

Medicine and Dentistry

• Frameshift Mutation 100%
• Pantothenate Kinase-Associated Neurodegeneration 100%
• Magnetic Resonance Imaging 20%
• Molecular Diagnosis 20%
• Parkinsonism 20%
• Founder Effect 20%
• Genetic Counseling 20%
• Genetic Screening 20%
• Rare Disease 20%
• Dystonia 20%