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Literature summary for 2.7.1.33 extracted from

  • Mikati, M.A.; Yehya, A.; Darwish, H.; Karam, P.; Comair, Y.
    Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration (2008), Eur. J. Paediatr. Neurol., 13, 61-64.
    View publication on PubMed

Application

Application Comment Organism
medicine a young girl with early onset pantothenate kinase-associated neurodegeneration whose initial clinical manifestation is ataxia at the age of 2.5 years and refractory severe dystonia resulting in essentially complete loss of motor control. She has a mutation in PANK2 gene consisting of an amino acid change of alanine to valine in exon 5 (A382V). After Globus Pallidus deep brain stimulation at the age of 11 years, the patient regains useful motor function and speech with a marked decrease in the severity of the dystonia Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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