[1] Ouvrier RA, Billson F. Benign paroxysmal tonic upgaze of childhood[J]. J Child Neurol,1988,3(3):177-180. [2] Salmina C,Taddeo I,Falesi M,et al.Paroxysmal tonic upgaze in normal children: A case series and a review of the literature[J].Eur J Paediatr Neurol,2012,16(6):683-687. [3] Humbertclaude V, Krams B, Nogue E, et al. Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders[J].Dev Med Child Neurol,2018,60(12):1256-1263. [4] Fernández-Alvarez E.Transient benign paroxysmal movement disorders in infancy[J].Eur J Paediatr Neurol,2018,22(2):230-237. [5] Quade A, Thiel A, Kurth I, et al. Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition[J].Eur J Paediatr Neurol,2020,25:181-186. [6] Zhang LP, Jia Y, Wang YP. Identification of two de novo variants of CACNA1A in pediatric chinese patients with paroxysmal tonic upgaze[J].Front Pediatr,2021(9):722105. [7] Casano KR, Ryan ME, Bicknese AR, et al.MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency[J].Radiol Case Rep,2021,16(4):807-810. [8] Kartal A. Paroxysmal tonic upgaze in children: Three case reports and a review of the literature[J].Pediatr Emerg Care,2019,35(4):e67-e69. [9] Blumkin L, Leshinsky-Silver E, Michelson M, et al. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A[J]. Eur J Paediatr Neurol,2015,19(3):292-297. [10] Solazzi R, Castellotti B, Canafoglia L, et al. Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy[J].Epileptic Disord,2021,23(4):643-647. [11] Riquet A, Cleuziou P, Floret V, et al. Paroxysmal tonic upgaze in a patient with congenital ataxia due to a de novo missense variant of CACNA1G[J]. Pediatr Neurol,2023(139):22-23. [12] Stenson PD, Mort M, Ball EV, et al.The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies[J].Hum Genet,2017,136(6):665-677. [13] Fukumura S, Watanabe T, Takayama R, et al.Paroxysmal tonic upward gaze complicating Angelman syndrome[J].Pediatr Neurol,2015,52(1):125-127. [14] Gross I, Gross-Tsur V. Paroxysmal tonic upward gaze at adolescence: A girl with Prader-Willi syndrome[J].Isr Med Assoc J,2016,18(11):703-704. [15] Gur-Hartman T, Berkowitz O, Yosovich K, et al. Clinical phenotypes of infantile onset CACNA1A-related disorder[J].Eur J Paediatr Neurol,2021(30):144-154. [16] Humbertclaude V, Riant F, Krams B, et al. Cognitive impairment in children with CACNA1A mutations[J].Dev Med Child Neurol,2020,62(3):330-337. [17] Indelicato E, Boesch S. From genotype to phenotype: Expanding the clinical spectrum of CACNA1A variants in the era of next generation sequencing[J]. Front Neurol,2021(12):639994. [18] Bainbridge MN, Mazumder A, Ogasawara D, et al. Endocannabinoid dysfunction in neurological disease: Neuro-ocular DAGLA-related syndrome[J]. Brain,2022,145(10):3383-3390. [19] Lazar SM, Abid F. Pearls & Oy-sters: CACNA1A-related paroxysmal tonic upgaze with ataxia responsive to acetazolamide[J]. Neurology,2024,102(1):e207992. [20] Chang MY, Yuen T, Vyas A, et al. Paroxysmal tonic upgaze (PTU) associated with CACNA1A mutation and gross motor delay[J].J AAPOS,2021,25(6):353-353.e1. |