X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

Author:

Bousquet Idriss,Bozon Muriel,Castellani Valérie,Touraine Renaud,Piton Amélie,Gérard Bénédicte,Guibaud Laurent,Sanlaville Damien,Edery Patrick,Saugier-Veber Pascale,Putoux AudreyORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Reference27 articles.

1. Brown WS, Jeeves MA, Dietrich R, Burnison DS (1999) Bilateral field advantage and evoked potential interhemispheric transmission in commissurotomy and callosal agenesis. Neuropsychologia 37(10):1165–1180

2. Paul LK, Van Lancker-Sidtis D, Schieffer B, Dietrich R, Brown WS (2003) Communicative deficits in agenesis of the corpus callosum: nonliteral language and affective prosody. Brain Lang 85(2):313–324

3. des Portes V, Rolland A, Velazquez-Dominguez J, Peyric E, Cordier M-P, Gaucherand P et al (2018) Outcome of isolated agenesis of the corpus callosum: a population-based prospective study. Eur J Paediatr Neurol 22(1):82–92

4. Marsh APL, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SEM, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C (2017) Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet 49(4):511–514

5. Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ (2018) DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat 39(1):23–39

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