Marco Hernandez AV - Search Results

1

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.

Kegele J, Krüger J, Koko M, Lange L, Marco Hernandez AV, Martinez F, Münchau A, Lerche H, Lauxmann S. Kegele J, et al. Among authors: marco hernandez av. Front Neurol. 2021 Jul 8;12:701351. doi: 10.3389/fneur.2021.701351. eCollection 2021. Front Neurol. 2021. PMID: 34305802 Free PMC article.

2

Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.

Rosello M, Caro-Llopis A, Orellana C, Oltra S, Alemany-Albert M, Marco-Hernandez AV, Monfort S, Pedrola L, Martinez F, Tomás M. Rosello M, et al. Among authors: marco hernandez av. Pediatr Res. 2021 Aug;90(2):284-288. doi: 10.1038/s41390-020-01250-3. Epub 2020 Nov 11. Pediatr Res. 2021. PMID: 33177673

3

Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Marco Hernández AV, Caro A, Montoya Filardi A, Tomás Vila M, Monfort S, Beseler Soto B, Nieto-Barceló JJ, Martínez F. Marco Hernández AV, et al. Am J Med Genet A. 2022 Jan;188(1):147-159. doi: 10.1002/ajmg.a.62507. Epub 2021 Sep 30. Am J Med Genet A. 2022. PMID: 34590414

4

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Marco Hernández AV, Tomás Vila M, Caro Llopis A, Monfort S, Martinez F. Marco Hernández AV, et al. Front Neurol. 2021 Nov 30;12:784892. doi: 10.3389/fneur.2021.784892. eCollection 2021. Front Neurol. 2021. PMID: 34917021 Free PMC article.

5

Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Marco-Hernández AV, Caro-Llopis A, Rubio Sánchez P, Martínez Martínez JC, Tomás Vila M, Monfort S, Martínez F. Marco-Hernández AV, et al. J Child Neurol. 2022 Apr;37(5):340-350. doi: 10.1177/08830738211072694. Epub 2022 Jan 24. J Child Neurol. 2022. PMID: 35072530

6

N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Mayo S, Gómez-Manjón I, Marco-Hernández AV, Fernández-Martínez FJ, Camacho A, Martínez F. Mayo S, et al. Among authors: marco hernandez av. Int J Mol Sci. 2023 Mar 23;24(7):6100. doi: 10.3390/ijms24076100. Int J Mol Sci. 2023. PMID: 37047073 Free PMC article. Review.

7

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Nieto-Barcelo JJ, Gonzalez Montes N, Gonzalo Alonso I, Martinez F, Aparisi MJ, Martinez-Matilla M, Marco Hernandez AV, Tomás Vila M. Nieto-Barcelo JJ, et al. Among authors: marco hernandez av. J Pediatr Genet. 2021 Feb 19;12(2):159-162. doi: 10.1055/s-0041-1723958. eCollection 2023 Jun. J Pediatr Genet. 2021. PMID: 37090830 Free PMC article.

8

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Martínez-Matilla M, Ferre-Fernández JJ, Aparisi MJ, Marco-Hernández AV, Cerón JA, Crow YJ, Martínez-Castellano F, Tomás-Vila M, Pedrola L. Martínez-Matilla M, et al. Among authors: marco hernandez av. Pediatr Neurol. 2020 Nov;112:53-55. doi: 10.1016/j.pediatrneurol.2020.07.011. Epub 2020 Jul 25. Pediatr Neurol. 2020. PMID: 32911264 No abstract available.

9

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Marco-Hernández AV, Tomás-Vila M, Montoya-Filardi A, Barranco-González H, Vilchez Padilla JJ, Azorín I, Smeyers Dura P, Monfort-Membrado S, Pitarch-Castellano I, Martínez-Castellano F. Marco-Hernández AV, et al. Clin Genet. 2022 Feb;101(2):233-241. doi: 10.1111/cge.14093. Epub 2021 Dec 5. Clin Genet. 2022. PMID: 34842280

10

[Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity].

Tomás-Vila M, Menor F, Ley-Martos M, Jumillas-Luján MJ, Marco-Hernández AV, Barbero P. Tomás-Vila M, et al. Among authors: marco hernandez av. Rev Neurol. 2014 Feb 16;58(4):161-5. Rev Neurol. 2014. PMID: 24504878 Free article. Spanish.

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