Lunapark Deficiency Leads to an Autosomal Recessive Neurodevelopmental Phenotype With a Degenerative Course, Epilepsy and Distinct Brain Anomalies

Lunapark Deficiency Leads to an Autosomal Recessive Neurodevelopmental Phenotype With a Degenerative Course, Epilepsy and Distinct Brain Anomalies

Authors: Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. 

Citation: Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.