• Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors 

      Bakker, Mark K.; Spek, Rick A.A. var der; Rheenen, Wouter van; Morel, Sandrine; Bourcier, Romain; Hostettler, Isabel C.; Varinder, S. Alg; Eijk, Kristel R. van; Koido, Masaru; Akiyama, Masato; Terao, Chikashi; Matsuda, Koichi; Walters, Robin G.; Lin, Kuang; Li, Liming; Millwood, Iona Y.; Chen, Zhengming; Rouleau, Guy A.; Zhou, Sirui; Rannikmae, Kristiina; Sudlow, Cathie L.M.; Houlden, Henry; Berg, Leonard H. van den; Dina, Christian; Naggara, Olivier; Gentric, Jean-Christophe; Shotar, Eimad; Eugène, François; Desal, Hubert; Winsvold, Bendik K S; Børte, Sigrid; Johnsen, Marianne Bakke; Brumpton, Ben Michael; Sandvei, Marie Søfteland; Willer, Cristen J.; Hveem, Kristian; Zwart, John-Anker; Verschuren, W.M. Monique; Friedrich, Christoph M.; Hirsch, Sven; Schilling, Sabine; Dauvillier, Jérôme; Martin, Olivier; Jones, Gregory T.; Bown, Matthew J.; Ko, Nerissa U.; Kim, Helen; Coleman, Jonathan R. I.; Breen, Gerome; Zaroff, Jonathan G. (Peer reviewed; Journal article, 2020)
      Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide ...
    • R1352Q CACNA1A variant in a patient with sporadic hemiplegic migrainem ataxia, seizures and cerebral oedema: A case report 

      Stubberud, Anker; O'Connor, Emer; Tronvik, Erling Andreas; Houlden, Henry; Matharu, Manjit (Journal article; Peer reviewed, 2021)
      Mutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head ...