Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions.
Snjolaug ArnardottirFrancesca Del GaudioStefanos KlironomosEike-Benjamin BrauneAriane Araujo LombrañaDaniel V OliveiraShaobo JinHelena KarlströmUrban LendahlChristina SjöstrandPublished in: Neurology. Genetics (2021)
We identify a family with migraine and WML in which some members carry a cysteine-sparing hypomorphic NOTCH3 mutation. Although a causal relationship is not established, we believe that the observations contribute to the discussion on dysregulated Notch signaling in cerebral SVDs.