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Volumn 12, Issue 4, 2013, Pages 406-414

Developmental brain dysfunction: Revival and expansion of old concepts based on new genetic evidence

Author keywords

[No Author keywords available]

Indexed keywords

BEHAVIOR; BRAIN DYSFUNCTION; COGNITIVE DEVELOPMENT; DEVELOPMENTAL DISORDER; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC TRAIT; GENETIC VARIABILITY; GENETICS; HUMAN; MOTOR DEVELOPMENT; NOTE; PHENOTYPE; PRIORITY JOURNAL;

EID: 84875237809     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(13)70011-5     Document Type: Note
Times cited : (250)

References (76)
  • 1
    • 84875246468 scopus 로고    scopus 로고
    • American Psychiatric Association, (accessed Sept 17, 2012).
    • DSM-5 Development, 2012 American Psychiatric Association, (accessed Sept 17, 2012). http://www.dsm5.org.
    • DSM-5 Development, 2012
  • 2
    • 64149124533 scopus 로고    scopus 로고
    • Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics
    • Reiss AL Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics. J Child Psychol Psychiatry 2009, 50:87-98.
    • (2009) J Child Psychol Psychiatry , vol.50 , pp. 87-98
    • Reiss, A.L.1
  • 3
    • 80054975052 scopus 로고    scopus 로고
    • Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait
    • Johnson MR, Shorvon SD Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait. Epilepsy Behav 2011, 22:421-427.
    • (2011) Epilepsy Behav , vol.22 , pp. 421-427
    • Johnson, M.R.1    Shorvon, S.D.2
  • 4
    • 84870064466 scopus 로고    scopus 로고
    • Neurodevelopmental model of schizophrenia: update 2012
    • Rapoport JL, Giedd JN, Gogtay N Neurodevelopmental model of schizophrenia: update 2012. Mol Psychiatry 2012, 17:1228-1238.
    • (2012) Mol Psychiatry , vol.17 , pp. 1228-1238
    • Rapoport, J.L.1    Giedd, J.N.2    Gogtay, N.3
  • 5
    • 85009157733 scopus 로고    scopus 로고
    • Diagnosis of developmental disabilities
    • Paul H. Brookes Publishing Co, Baltimore, M.L. Batshaw, G.R. Lotrecchiano, N.J. Roizen (Eds.)
    • Myers SM Diagnosis of developmental disabilities. Children with disabilities 2013, 243-266. Paul H. Brookes Publishing Co, Baltimore. 7th edn. M.L. Batshaw, G.R. Lotrecchiano, N.J. Roizen (Eds.).
    • (2013) Children with disabilities , pp. 243-266
    • Myers, S.M.1
  • 7
    • 0033026267 scopus 로고    scopus 로고
    • Motor coordination and kinaesthesis in boys with attention deficit-hyperactivity disorder
    • Piek JP, Pitcher TM, Hay DA Motor coordination and kinaesthesis in boys with attention deficit-hyperactivity disorder. Dev Med Child Neurol 1999, 41:159-165.
    • (1999) Dev Med Child Neurol , vol.41 , pp. 159-165
    • Piek, J.P.1    Pitcher, T.M.2    Hay, D.A.3
  • 9
    • 77957372650 scopus 로고    scopus 로고
    • Understanding the complex etiologies of developmental disorders: behavioral and molecular genetic approaches
    • Willcutt EG, Pennington BF, Duncan L, et al. Understanding the complex etiologies of developmental disorders: behavioral and molecular genetic approaches. J Dev Behav Pediatr 2010, 31:533-544.
    • (2010) J Dev Behav Pediatr , vol.31 , pp. 533-544
    • Willcutt, E.G.1    Pennington, B.F.2    Duncan, L.3
  • 10
    • 60549109887 scopus 로고    scopus 로고
    • Relations among speech, language, and reading disorders
    • Pennington BF, Bishop DV Relations among speech, language, and reading disorders. Annu Rev Psychol 2009, 60:283-306.
    • (2009) Annu Rev Psychol , vol.60 , pp. 283-306
    • Pennington, B.F.1    Bishop, D.V.2
  • 11
    • 32844460361 scopus 로고    scopus 로고
    • The epidemiology of cerebral palsy: incidence, impairments and risk factors
    • Odding E, Roebroeck ME, Stam HJ The epidemiology of cerebral palsy: incidence, impairments and risk factors. Disabil Rehabil 2006, 28:183-191.
    • (2006) Disabil Rehabil , vol.28 , pp. 183-191
    • Odding, E.1    Roebroeck, M.E.2    Stam, H.J.3
  • 12
    • 84857058937 scopus 로고    scopus 로고
    • Genetic insights into the causes and classification of the cerebral palsies
    • Moreno-De-Luca A, Ledbetter DH, Martin CL Genetic insights into the causes and classification of the cerebral palsies. Lancet Neurol 2012, 11:283-292.
    • (2012) Lancet Neurol , vol.11 , pp. 283-292
    • Moreno-De-Luca, A.1    Ledbetter, D.H.2    Martin, C.L.3
  • 13
    • 79957771167 scopus 로고    scopus 로고
    • Comorbidity of intellectual disability and mental disorder in children and adolescents: a systematic review
    • Einfeld SL, Ellis LA, Emerson E Comorbidity of intellectual disability and mental disorder in children and adolescents: a systematic review. J Intellect Dev Disabil 2011, 36:137-143.
    • (2011) J Intellect Dev Disabil , vol.36 , pp. 137-143
    • Einfeld, S.L.1    Ellis, L.A.2    Emerson, E.3
  • 14
    • 84863501274 scopus 로고    scopus 로고
    • ASD, a psychiatric disorder, or both? Psychiatric diagnoses in adolescents with high-functioning ASD
    • Mazefsky CA, Oswald DP, Day TN, et al. ASD, a psychiatric disorder, or both? Psychiatric diagnoses in adolescents with high-functioning ASD. J Clin Child Adolesc Psycho 2012, 41:516-523.
    • (2012) J Clin Child Adolesc Psycho , vol.41 , pp. 516-523
    • Mazefsky, C.A.1    Oswald, D.P.2    Day, T.N.3
  • 15
    • 0002923825 scopus 로고
    • Minimal brain dysfunction
    • University of Chicago Press, Chicago, IL, J.S. Chall, A.F. Mirsky (Eds.)
    • Denckla MB Minimal brain dysfunction. Education and the brain 1978, 223-268. University of Chicago Press, Chicago, IL. J.S. Chall, A.F. Mirsky (Eds.).
    • (1978) Education and the brain , pp. 223-268
    • Denckla, M.B.1
  • 17
    • 0013907919 scopus 로고
    • Syndromes of minimal brain dysfunction in children
    • Clemmens RL Syndromes of minimal brain dysfunction in children. Md State Med J 1966, 15:139-140.
    • (1966) Md State Med J , vol.15 , pp. 139-140
    • Clemmens, R.L.1
  • 18
    • 37049230915 scopus 로고
    • Familial mental retardation: a continuing dilemma
    • Zigler E Familial mental retardation: a continuing dilemma. Science 1967, 155:292-298.
    • (1967) Science , vol.155 , pp. 292-298
    • Zigler, E.1
  • 19
    • 0018497844 scopus 로고
    • Cognitive development in retarded and nonretarded persons: Piagetian tests of the similar sequence hypothesis
    • Weisz JR, Zigler E Cognitive development in retarded and nonretarded persons: Piagetian tests of the similar sequence hypothesis. Psychol Bull 1979, 86:831-851.
    • (1979) Psychol Bull , vol.86 , pp. 831-851
    • Weisz, J.R.1    Zigler, E.2
  • 20
    • 85067143692 scopus 로고
    • Possible contributions of the study of organically retarded persons to developmental theory
    • Erlbaum, Hillsdale, NJ, E. Zigler, D. Balla (Eds.)
    • Cicchetti D, Pogge-Hesse P Possible contributions of the study of organically retarded persons to developmental theory. Mental retardation: the developmental-difference controversy 1982, 277-318. Erlbaum, Hillsdale, NJ. E. Zigler, D. Balla (Eds.).
    • (1982) Mental retardation: the developmental-difference controversy , pp. 277-318
    • Cicchetti, D.1    Pogge-Hesse, P.2
  • 21
    • 0003140893 scopus 로고
    • Applying the developmental perspective to Down syndrome
    • Cambridge University Press, New York, D. Cicchetti, M. Beeghly (Eds.)
    • Hodapp RM, Zigler E Applying the developmental perspective to Down syndrome. Children with Down syndrome: A developmental perspective 1990, 1-28. Cambridge University Press, New York. D. Cicchetti, M. Beeghly (Eds.).
    • (1990) Children with Down syndrome: A developmental perspective , pp. 1-28
    • Hodapp, R.M.1    Zigler, E.2
  • 22
    • 0019119102 scopus 로고
    • A pediatric overview of the spectrum of developmental disabilities
    • Capute AJ, Palmer FB A pediatric overview of the spectrum of developmental disabilities. J Dev Behav Pediatr 1980, 1:66-69.
    • (1980) J Dev Behav Pediatr , vol.1 , pp. 66-69
    • Capute, A.J.1    Palmer, F.B.2
  • 23
    • 0009688386 scopus 로고
    • A Neurodevelopmental perspective on the continuum of developmental disabilities
    • Paul H Brookes Publishing Co, Baltimore, A.J. Capute, P.J. Accardo (Eds.)
    • Capute AJ, Accardo PJ A Neurodevelopmental perspective on the continuum of developmental disabilities. Developmental disabilities in infancy and childhood 1991, Paul H Brookes Publishing Co, Baltimore. A.J. Capute, P.J. Accardo (Eds.).
    • (1991) Developmental disabilities in infancy and childhood
    • Capute, A.J.1    Accardo, P.J.2
  • 24
    • 0035571916 scopus 로고    scopus 로고
    • Atypical brain development: a conceptual framework for understanding developmental learning disabilities
    • Gilger JW, Kaplan BJ Atypical brain development: a conceptual framework for understanding developmental learning disabilities. Dev Neuropsychol 2001, 20:465-481.
    • (2001) Dev Neuropsychol , vol.20 , pp. 465-481
    • Gilger, J.W.1    Kaplan, B.J.2
  • 25
    • 77957118061 scopus 로고    scopus 로고
    • The ESSENCE in child psychiatry: early symptomatic syndromes eliciting neurodevelopmental clinical examinations
    • Gillberg C The ESSENCE in child psychiatry: early symptomatic syndromes eliciting neurodevelopmental clinical examinations. Res Dev Disabil 2010, 31:1543-1551.
    • (2010) Res Dev Disabil , vol.31 , pp. 1543-1551
    • Gillberg, C.1
  • 26
    • 80052588672 scopus 로고    scopus 로고
    • An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
    • Kaminsky EB, Kaul V, Paschall J, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med 2011, 13:777-784.
    • (2011) Genet Med , vol.13 , pp. 777-784
    • Kaminsky, E.B.1    Kaul, V.2    Paschall, J.3
  • 27
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet 2011, 43:838-846.
    • (2011) Nat Genet , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 28
    • 81755183108 scopus 로고    scopus 로고
    • Relative burden of large CNVs on a range of neurodevelopmental phenotypes
    • Girirajan S, Brkanac Z, Coe BP, et al. Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011, 7:e1002334.
    • (2011) PLoS Genet , vol.7
    • Girirajan, S.1    Brkanac, Z.2    Coe, B.P.3
  • 29
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders SJ, Murtha MT, Gupta AR, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3
  • 30
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3
  • 31
    • 80053906761 scopus 로고    scopus 로고
    • Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    • Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011, 478:57-63.
    • (2011) Nature , vol.478 , pp. 57-63
    • Najmabadi, H.1    Hu, H.2    Garshasbi, M.3
  • 32
    • 80052273655 scopus 로고    scopus 로고
    • Exome sequencing supports a de novo mutational paradigm for schizophrenia
    • Xu B, Roos JL, Dexheimer P, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet 2011, 43:864-868.
    • (2011) Nat Genet , vol.43 , pp. 864-868
    • Xu, B.1    Roos, J.L.2    Dexheimer, P.3
  • 33
    • 84884675916 scopus 로고    scopus 로고
    • Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts
    • published online Oct 9.
    • Moreno-De-Luca D, Sanders S, Willsey A, et al. Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry 2012, published online Oct 9. 10.1038/mp.2012.138.
    • (2012) Mol Psychiatry
    • Moreno-De-Luca, D.1    Sanders, S.2    Willsey, A.3
  • 34
    • 79960444931 scopus 로고    scopus 로고
    • Practical guidelines for managing patients with 22q11.2 deletion syndrome
    • Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011, 159:332-339.
    • (2011) J Pediatr , vol.159 , pp. 332-339
    • Bassett, A.S.1    McDonald-McGinn, D.M.2    Devriendt, K.3
  • 35
    • 0033063788 scopus 로고    scopus 로고
    • Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern
    • Moss EM, Batshaw ML, Solot CB, et al. Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J Pediatr 1999, 134:193-198.
    • (1999) J Pediatr , vol.134 , pp. 193-198
    • Moss, E.M.1    Batshaw, M.L.2    Solot, C.B.3
  • 36
    • 84870280744 scopus 로고    scopus 로고
    • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
    • Zufferey F, Sherr E, Beckmann N, et al. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 2012, 49:660-668.
    • (2012) J Med Genet , vol.49 , pp. 660-668
    • Zufferey, F.1    Sherr, E.2    Beckmann, N.3
  • 37
    • 38849126088 scopus 로고    scopus 로고
    • Recurrent 16p11.2 microdeletions in autism
    • Kumar RA, KaraMohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
    • (2008) Hum Mol Genet , vol.17 , pp. 628-638
    • Kumar, R.A.1    KaraMohamed, S.2    Sudi, J.3
  • 38
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
    • (2008) N Engl J Med , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3
  • 39
    • 77953704493 scopus 로고    scopus 로고
    • Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    • Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2010, 47:332-341.
    • (2010) J Med Genet , vol.47 , pp. 332-341
    • Shinawi, M.1    Liu, P.2    Kang, S.H.3
  • 40
    • 82355181881 scopus 로고    scopus 로고
    • Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion
    • Dale RC, Grattan-Smith P, Fung VS, Peters GB Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology 2011, 77:1401-1402.
    • (2011) Neurology , vol.77 , pp. 1401-1402
    • Dale, R.C.1    Grattan-Smith, P.2    Fung, V.S.3    Peters, G.B.4
  • 41
    • 80053920983 scopus 로고    scopus 로고
    • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
    • Jacquemont S, Reymond A, Zufferey F, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011, 478:97-102.
    • (2011) Nature , vol.478 , pp. 97-102
    • Jacquemont, S.1    Reymond, A.2    Zufferey, F.3
  • 42
    • 2942668448 scopus 로고    scopus 로고
    • Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease
    • Christiansen J, Dyck JD, Elyas BG, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 2004, 94:1429-1435.
    • (2004) Circ Res , vol.94 , pp. 1429-1435
    • Christiansen, J.1    Dyck, J.D.2    Elyas, B.G.3
  • 43
    • 49949085933 scopus 로고    scopus 로고
    • Large recurrent microdeletions associated with schizophrenia
    • Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455:232-236.
    • (2008) Nature , vol.455 , pp. 232-236
    • Stefansson, H.1    Rujescu, D.2    Cichon, S.3
  • 44
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium
    • Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455:237-241. International Schizophrenia Consortium.
    • (2008) Nature , vol.455 , pp. 237-241
  • 45
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008, 359:1685-1699.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 46
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P, Paterson AD, Zwaigenbaum L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007, 39:319-328.
    • (2007) Nat Genet , vol.39 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3
  • 47
    • 79961105991 scopus 로고    scopus 로고
    • Understanding the impact of 1q21.1 copy number variant
    • Harvard C, Strong E, Mercier E, et al. Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis 2011, 6:54.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 54
    • Harvard, C.1    Strong, E.2    Mercier, E.3
  • 48
    • 39749154724 scopus 로고    scopus 로고
    • A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
    • Sharp AJ, Mefford HC, Li K, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008, 40:322-328.
    • (2008) Nat Genet , vol.40 , pp. 322-328
    • Sharp, A.J.1    Mefford, H.C.2    Li, K.3
  • 49
  • 50
    • 67449114040 scopus 로고    scopus 로고
    • Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
    • Ben-Shachar S, Lanpher B, German JR, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009, 46:382-388.
    • (2009) J Med Genet , vol.46 , pp. 382-388
    • Ben-Shachar, S.1    Lanpher, B.2    German, J.R.3
  • 51
    • 78249281977 scopus 로고    scopus 로고
    • Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
    • Moreno-De-Luca D, Mulle JG, Kaminsky EB, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010, 87:618-630.
    • (2010) Am J Hum Genet , vol.87 , pp. 618-630
    • Moreno-De-Luca, D.1    Mulle, J.G.2    Kaminsky, E.B.3
  • 52
    • 77149134317 scopus 로고    scopus 로고
    • Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
    • Nagamani SC, Erez A, Shen J, et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 2010, 18:278-284.
    • (2010) Eur J Hum Genet , vol.18 , pp. 278-284
    • Nagamani, S.C.1    Erez, A.2    Shen, J.3
  • 53
    • 77957243631 scopus 로고    scopus 로고
    • Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion
    • Loirat C, Bellanne-Chantelot C, Husson I, et al. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant 2010, 25:3430-3433.
    • (2010) Nephrol Dial Transplant , vol.25 , pp. 3430-3433
    • Loirat, C.1    Bellanne-Chantelot, C.2    Husson, I.3
  • 54
    • 0038278610 scopus 로고    scopus 로고
    • CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    • Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 2003, 82:1-9.
    • (2003) Genomics , vol.82 , pp. 1-9
    • Verkerk, A.J.1    Mathews, C.A.2    Joosse, M.3    Eussen, B.H.4    Heutink, P.5    Oostra, B.A.6
  • 55
    • 33645415686 scopus 로고    scopus 로고
    • Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    • Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006, 354:1370-1377.
    • (2006) N Engl J Med , vol.354 , pp. 1370-1377
    • Strauss, K.A.1    Puffenberger, E.G.2    Huentelman, M.J.3
  • 56
    • 39449121016 scopus 로고    scopus 로고
    • CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
    • Friedman JI, Vrijenhoek T, Markx S, et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 2008, 13:261-266.
    • (2008) Mol Psychiatry , vol.13 , pp. 261-266
    • Friedman, J.I.1    Vrijenhoek, T.2    Markx, S.3
  • 57
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011, 43:585-589.
    • (2011) Nat Genet , vol.43 , pp. 585-589
    • O'Roak, B.J.1    Deriziotis, P.2    Lee, C.3
  • 58
    • 72149095158 scopus 로고    scopus 로고
    • CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in drosophila
    • Zweier C, de Jong EK, Zweier M, et al. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in drosophila. Am J Hum Genet 2009, 85:655-666.
    • (2009) Am J Hum Genet , vol.85 , pp. 655-666
    • Zweier, C.1    de Jong, E.K.2    Zweier, M.3
  • 59
    • 84869235517 scopus 로고    scopus 로고
    • Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions
    • Schaaf CP, Boone PM, Sampath S, et al. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet 2012, 20:1240-1247.
    • (2012) Eur J Hum Genet , vol.20 , pp. 1240-1247
    • Schaaf, C.P.1    Boone, P.M.2    Sampath, S.3
  • 60
    • 77952691843 scopus 로고    scopus 로고
    • Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    • Ching MS, Shen Y, Tan WH, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet 2010, 153:937-947.
    • (2010) Am J Med Genet , vol.153 , pp. 937-947
    • Ching, M.S.1    Shen, Y.2    Tan, W.H.3
  • 61
    • 84857935608 scopus 로고    scopus 로고
    • Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders
    • Duong L, Klitten LL, Moller RS, et al. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet 2012, 159:354-358.
    • (2012) Am J Med Genet , vol.159 , pp. 354-358
    • Duong, L.1    Klitten, L.L.2    Moller, R.S.3
  • 62
    • 80054860297 scopus 로고    scopus 로고
    • Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
    • Gauthier J, Siddiqui TJ, Huashan P, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet 2011, 130:563-573.
    • (2011) Hum Genet , vol.130 , pp. 563-573
    • Gauthier, J.1    Siddiqui, T.J.2    Huashan, P.3
  • 63
    • 44349150359 scopus 로고    scopus 로고
    • X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    • Dibbens LM, Tarpey PS, Hynes K, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008, 40:776-781.
    • (2008) Nat Genet , vol.40 , pp. 776-781
    • Dibbens, L.M.1    Tarpey, P.S.2    Hynes, K.3
  • 64
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    • Depienne C, Bouteiller D, Keren B, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009, 5:e1000381.
    • (2009) PLoS Genet , vol.5
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3
  • 65
    • 84860650526 scopus 로고    scopus 로고
    • Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature
    • Camacho A, Simon R, Sanz R, Vinuela A, Martinez-Salio A, Mateos F Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature. Epilepsy Behav 2012, 24:134-137.
    • (2012) Epilepsy Behav , vol.24 , pp. 134-137
    • Camacho, A.1    Simon, R.2    Sanz, R.3    Vinuela, A.4    Martinez-Salio, A.5    Mateos, F.6
  • 66
    • 81555203199 scopus 로고    scopus 로고
    • Linking neurodevelopmental and synaptic theories of mental illness through DISC1
    • Brandon NJ, Sawa A Linking neurodevelopmental and synaptic theories of mental illness through DISC1. Nat Rev Neurosci 2011, 12:707-722.
    • (2011) Nat Rev Neurosci , vol.12 , pp. 707-722
    • Brandon, N.J.1    Sawa, A.2
  • 67
    • 78049329316 scopus 로고    scopus 로고
    • Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    • Endele S, Rosenberger G, Geider K, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010, 42:1021-1026.
    • (2010) Nat Genet , vol.42 , pp. 1021-1026
    • Endele, S.1    Rosenberger, G.2    Geider, K.3
  • 68
    • 0141539482 scopus 로고    scopus 로고
    • Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised
    • Constantino JN, Davis SA, Todd RD, et al. Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised. J Autism Dev Disord 2003, 33:427-433.
    • (2003) J Autism Dev Disord , vol.33 , pp. 427-433
    • Constantino, J.N.1    Davis, S.A.2    Todd, R.D.3
  • 69
    • 79954571673 scopus 로고    scopus 로고
    • The quantitative nature of autistic social impairment
    • Constantino JN The quantitative nature of autistic social impairment. Pediatr Res 2011, 69:55-62.
    • (2011) Pediatr Res , vol.69 , pp. 55-62
    • Constantino, J.N.1
  • 71
    • 0031064497 scopus 로고    scopus 로고
    • Ritual, habit, and perfectionism: the prevalence and development of compulsive-like behavior in normal young children
    • Evans DW, Leckman JF, Carter A, et al. Ritual, habit, and perfectionism: the prevalence and development of compulsive-like behavior in normal young children. Child Dev 1997, 68:58-68.
    • (1997) Child Dev , vol.68 , pp. 58-68
    • Evans, D.W.1    Leckman, J.F.2    Carter, A.3
  • 72
    • 0022353093 scopus 로고
    • Revised neurological examination for subtle signs (1985)
    • Denckla MB Revised neurological examination for subtle signs (1985). Psychopharmacol Bull 1985, 21:773-800.
    • (1985) Psychopharmacol Bull , vol.21 , pp. 773-800
    • Denckla, M.B.1
  • 74
    • 33746853117 scopus 로고    scopus 로고
    • Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening
    • American Academy of Pediatrics
    • Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics 2006, 118:405-420. American Academy of Pediatrics.
    • (2006) Pediatrics , vol.118 , pp. 405-420
  • 75
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M, Hudgins L Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010, 12:742-745.
    • (2010) Genet Med , vol.12 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 76
    • 82955235679 scopus 로고    scopus 로고
    • Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
    • Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2011, 77:1629-1635.
    • (2011) Neurology , vol.77 , pp. 1629-1635
    • Michelson, D.J.1    Shevell, M.I.2    Sherr, E.H.3    Moeschler, J.B.4    Gropman, A.L.5    Ashwal, S.6


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