A novel CACNA1A mutation in a neonate with severe encephalopathy at birth
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-023-02453-1.pdf
Reference8 articles.
1. Volpe JJ (2012) Neonatal encephalopathy: an inadequate term for hypoxic-ischemic encephalopathy. Ann Neurol 72:156. https://doi.org/10.1002/ana.23647
2. Epi4K Consortium (2016) De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am J Hum Genet 99:287–298. https://doi.org/10.1016/j.ajhg.2016.06.003
3. Pavone P, Striano P, Falsaperla R, Pavone L, Ruggieri M (2014) Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev 36:739–751. https://doi.org/10.1016/j.braindev.2013.10.008
4. Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C et al (2021) CACNA1A-associated epilepsy: electroclinical findings and treatment response on seizures in 18 patients. Eur J Paediatr Neurol 33:75–85. https://doi.org/10.1016/j.ejpn.2021.05.010
5. Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M et al (2016) Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet 170:2173–2176. https://doi.org/10.1002/ajmg.a.37678
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