Primary dystonia

[1]. A Zimprich, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001 Sep;29(1):66-9. [Content Brief]

[2]. B Balint, et al. KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia. Eur J Neurol. 2020 Aug;27(8):1471-1477. [Content Brief]

[3]. Demy J S Kuipers, et al. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Ann Neurol. 2021 Mar;89(3):485-497. [Content Brief]

[4]. Dora Steel, et al. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Ann Neurol. 2020 Nov;88(5):867-877. [Content Brief]

[5]. Edoardo Monfrini, et al. A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia. Ann Neurol. 2021 Apr;89(4):834-839. [Content Brief]

[6]. Esther Meyer, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-237. [Content Brief]

[7]. Gali Heimer, et al. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. [Content Brief]

[8]. Gavin Charlesworth, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012 Dec 7;91(6):1041-50. [Content Brief]

[9]. Gavin Charlesworth, et al. Mutations in HPCA cause autosomal-recessive primary isolated dystonia. Am J Hum Genet. 2015 Apr 2;96(4):657-65. [Content Brief]

[10]. H Ichinose, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994 Nov;8(3):236-42. [Content Brief]

[11]. Joshua Hersheson, et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol. 2013 Apr;73(4):546-53. [Content Brief]

[12]. Julie Phukan, et al. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol. 2011 Dec;10(12):1074-85. [Content Brief]

[13]. Justus L Groen, et al. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet. 2015 Feb 15;24(4):987-93. [Content Brief]

[14]. L J Ozelius, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep;17(1):40-8. [Content Brief]

[15]. Matthew J Barrett, et al. Genetics and pharmacological treatment of dystonia. Int Rev Neurobiol. 2011;98:525-49. [Content Brief]

[16]. Michael Zech, et al. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Mov Disord. 2022 Jan;37(1):137-147. [Content Brief]

[17]. Michael Zech, et al. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet. 2015 Jun 4;96(6):883-93. [Content Brief]

[18]. Niccolo E Mencacci, et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet. 2015 Jun 4;96(6):938-47. [Content Brief]

[19]. Norbert Brüggemann, et al. Genetics of primary torsion dystonia. Curr Neurol Neurosci Rep. 2010 May;10(3):199-206. [Content Brief]

[20]. Patricia de Carvalho Aguiar, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. [Content Brief]

[21]. Sarah Camargos, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar;7(3):207-15. [Content Brief]

[22]. Satoshi Makino, et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet. 2007 Mar;80(3):393-406. [Content Brief]

[23]. Shirley Rainier, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004 Jul;61(7):1025-9. [Content Brief]

[24]. Sophie Sleiman, et al. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Hum Mol Genet. 2022 Feb 21;31(4):614-624. [Content Brief]

[25]. Tania Fuchs, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013 Jan;45(1):88-92. [Content Brief]

[26]. Tania Fuchs, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009 Mar;41(3):286-8. [Content Brief]

[27]. Ulrich Müller, et al. The monogenic primary dystonias. Brain. 2009 Aug;132(Pt 8):2005-25. [Content Brief]

[28]. Wan-Jin Chen, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011 Nov 20;43(12):1252-5. [Content Brief]

[29]. Y G Weber, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology. 2011 Sep 6;77(10):959-64. [Content Brief]