Reversing frontal disinhibition rescues behavioural deficits in models of CACNA1A-associated neurodevelopment disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology
Link
http://www.nature.com/articles/s41380-021-01175-1.pdf
Reference88 articles.
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2. Damaj L, Lupien-Meilleur A, Lortie A, Riou E, Ospina LH, Gagnon L, et al. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. Eur J Hum Genet. 2015;23:1505–12.
3. Epi KC. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet. 2016;99:287–98.
4. Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia. 2009;50:2501–03.
5. Reinson K, Oiglane-Shlik E, Talvik I, Vaher U, Ounapuu A, Ennok M, et al. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A. 2016;170:2173–6.
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