1. |
Desikan RS, Barkovich AJ. Malformations of cortical development. Ann Neurol, 2016, 80(6): 797-810.
|
2. |
Barkovich AJ, Jackson DE Jr, Boyer RS. Band heterotopias: a newly recognized neuronal migration anomaly. Radiology, 1989, 171(2): 455-458.
|
3. |
Cannaerts E, Shukla A, Hasanhodzic M, et al. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature. BMC Med Genet, 2018, 19(1): 140.
|
4. |
Chen MH, Walsh CA. FLNA-Related Periventricular Nodular Heterotopia. In: GeneReviews(R)// Adam MP, Ardinger HH, Pagon RA et al, eds. Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved, 1993.
|
5. |
Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol, 2014, 13(7): 710-726.
|
6. |
Heinzen EL, O'Neill AC, Zhu X, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet, 2018, 14(5): e1007281.
|
7. |
Zajac-Mnich M, Kostkiewicz A, Guz W, et al. Clinical and morphological aspects of gray matter heterotopia type developmental malformations. Pol J Radiol, 2014, 79: 502-507.
|
8. |
Hung PC, Wang HS, Chou ML, et al. Clinical and neuroimaging findings in children with gray matter heterotopias: A single institution experience of 36 patients. Eur J Paediatr Neurol, 2016, 20(5): 732-737.
|
9. |
Chen MH, Choudhury S, Hirata M, et al. Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations. Am J Med Genet A, 2018, 176(2): 337-350.
|
10. |
Fox JW, Lamperti ED, Eksioglu YZ, et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron, 1998, 21(6): 1315-1325.
|
11. |
Reinstein E, Frentz S, Morgan T, et al. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. Eur J Hum Genet, 2013, 21(5): 494-502.
|