De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
Tóm tắt
Từ khóa
Tài liệu tham khảo
American Psychiatric Association: Diagnostic and statistical manual of mental disorders. 2013, Arlington, VA: American Psychiatric Publishing, 5
Abrahams BS, Geschwind DH: Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008, 9 (5): 341-355. 10.1038/nrg2346.
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, et al: Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012, 485 (7397): 242-245. 10.1038/nature11011.
Imbrici P, Camerino DC, Tricarico D: Major channels involved in neuropsychiatric disorders and therapeutic perspectives. Front Genet. 2013, 4: 76-
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH: Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003, 8 (2): 186-194. 10.1038/sj.mp.4001241.
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K: A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci. 2004, 24 (11): 2690-2698. 10.1523/JNEUROSCI.3089-03.2004.
Wood JN, Boorman J: Voltage-gated sodium channel blockers; target validation and therapeutic potential. Curr Top Med Chem. 2005, 5 (6): 529-537. 10.2174/1568026054367584.
Meisler MH, Kearney JA: Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest. 2005, 115 (8): 2010-2017. 10.1172/JCI25466.
Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP: Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Genes Brain Behav. 2012, 11 (2): 170-176. 10.1111/j.1601-183X.2011.00756.x.
Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T: An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. Am J Med Genet A. 2011, 155A (4): 920-923.
Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR: Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia. 2012, 53 (12): 2128-2134. 10.1111/j.1528-1167.2012.03676.x.
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H: Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology. 2013, 81 (11): 992-998. 10.1212/WNL.0b013e3182a43e57.
Pereira S, Vieira JP, Barroca F, Roll P, Carvalhas R, Cau P, Sequeira S, Genton P, Szepetowski P: Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. Neurology. 2004, 63 (1): 191-192. 10.1212/01.WNL.0000132844.20654.C1.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW: De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012, 485 (7397): 237-241. 10.1038/nature10945.
Bartnik M, Chun-Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P: Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures. Clin Genet. 2011, 80 (2): 191-195. 10.1111/j.1399-0004.2010.01526.x.
American Psychiatric Association: Diagnostic and statistical manual of mental disorders. 2000, Washington, DC: American Psychiatric Association, 4
Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, Pickles A, Rutter M: The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000, 30 (3): 205-223. 10.1023/A:1005592401947.
Roid GH, Miller LJ: Leiter International Performance Scale-Revised. 1997, Wood Dale, IL: Stoelting Co.
Sparrow SS, Cicchetti DV, Balla DA: Vineland-II Survey Forms Manual (Vineland Adaptive Behavior Scales). 2005, Minneapolis, MN: AGS Publishing, 2
Dunn W: Sensory Profile. 1999, San Antonio: The Psychological Corporation
Miller LJ, Schoen SA: The sensory processing scales inventory: Sensory Over-Responsivity (SenSI: SOR). Am J Occup Ther. 2012, 62 (4): 393-406.
Grodberg D, Weinger PM, Kolevzon A, Soorya L, Buxbaum JD: Brief report: the autism mental status examination: development of a brief autism-focused exam. J Autism Dev Disord. 2012, 42 (3): 455-459. 10.1007/s10803-011-1255-4.
Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994, 24 (5): 659-685. 10.1007/BF02172145.
Kientz MA, Dunn W: A comparison of the performance of children with and without autism on the Sensory Profile. Am J Occup Ther. 1997, 51 (7): 530-537. 10.5014/ajot.51.7.530.
Dunn W, Myles BS, Orr S: Sensory processing issues associated with Asperger syndrome: a preliminary investigation. Am J Occup Ther. 2002, 56 (1): 97-102. 10.5014/ajot.56.1.97.
Watling RL, Deitz J, White O: Comparison of sensory profile scores of young children with and without autism spectrum disorders. Am J Occup Ther. 2001, 55 (4): 416-423. 10.5014/ajot.55.4.416.
Wiggins LD, Robins DL, Bakeman R, Adamson LB: Brief report: sensory abnormalities as distinguishing symptoms of autism spectrum disorders in young children. J Autism Dev Disord. 2009, 39 (7): 1087-1091. 10.1007/s10803-009-0711-x.
Crane L, Goddard L, Pring L: Sensory processing in adults with autism spectrum disorders. Autism. 2009, 13 (3): 215-228. 10.1177/1362361309103794.
Leekam SR, Nieto C, Libby SJ, Wing L, Gould J: Describing the sensory abnormalities of children and adults with autism. J Autism Dev Disord. 2007, 37 (5): 894-910. 10.1007/s10803-006-0218-7.
Kern JK, Trivedi MH, Grannemann BD, Garver CR, Johnson DG, Andrews AA, Savla JS, Mehta JA, Schroeder JL: Sensory correlations in autism. Autism. 2007, 11 (2): 123-134. 10.1177/1362361307075702.
Tomchek SD, Dunn W: Sensory processing in children with and without autism: a comparative study using the short sensory profile. Am J Occup Ther. 2007, 61 (2): 190-200. 10.5014/ajot.61.2.190.
Schoen SA, Miller LJ, Green KE: Pilot study of the Sensory Over-Responsivity Scales: assessment and inventory. Am J Occup Ther. 2008, 62 (4): 393-406. 10.5014/ajot.62.4.393.
Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF: SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia. 2007, 48 (6): 1138-1142. 10.1111/j.1528-1167.2007.01049.x.
Barker RA, Barasi S, Neal MJ: Neuroscience at a Glance. 2003, Oxford: Blackwell Publishing Ltd, 2
Ben-Sasson A, Soto TW, Martinez-Pedraza F, Carter AS: Early sensory over-responsivity in toddlers with autism spectrum disorders as a predictor of family impairment and parenting stress. J Child Psychol Psychiatry. 2013, 54 (8): 846-853. 10.1111/jcpp.12035.
Lane SJ, Reynolds S, Thacker L: Sensory over-responsivity and ADHD: differentiating using electrodermal response, cortisol and anxiety. Front Integr Neurosci. 2010, 66 (4): 595-603.