The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome

Autor: S. Vidal, N. Brandi, P. Pacheco, J. Maynou, G. Fernandez, C. Xiol, A. Pascual-Alonso, M. Pineda, J. Armstrong, O'Callaghan Maria del Mar, Àngels Garcia-Cazorla, Maria del Carmen Serrano Munuera, Silvia Cuso García, Monica Troncoso, Guillermo Fariña, Juan José García Peñas, Belen Gil Fournier, Soraya Ramiro León, Miriam Guitart, Neus Baena, Guiomar Perez de Nanclares, Intzane Ocio Oci, Eva Gutiérrez-Delicado, Belén Abarrategui, Eva Barroso, Fernando Santos-Simarro, Pablo Lapunzina, Francisco J. García, Juan M. Acedo, Asunción García, Miguel A. Martinez, Antonio Martínez-Bermejo

Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4355ed56edaaef6c315e7947d208b0b
https://doi.org/10.1016/j.ejpn.2019.04.006

Neuropsychological performance in neurofibromatosis type 1

Autor: José Antonio Portellano Pérez, Antonio Martínez Bermejo, Lilia Hernández Del Castillo, Alexandra Garriz Luis, Ramón Velázquez Fragua, Pilar Tirado Requero

Publikováno v: Anales de Pediatría (English Edition), Vol 87, Iss 2, Pp 73-77 (2017)

Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder with various clinical manifestations that affect the peripheral and central nervous system, as well as the skin, bones and endocrine and vascular system. There is still insufficient k

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4834ab2de6694f0ec874e1fb61fba200
http://www.sciencedirect.com/science/article/pii/S2341287917301047

Late Infantile Neuronal Ceroid Lipofuscinosis

Autor: Elena Martín Hernández, María Socorro Pérez-Poyato, Montserrat Milà, Laia Rodriguez-Revenga, Antonio Martínez Bermejo, Alfonso Verdú Pérez, Jesús Eiris Puñal, María J Martínez González, Isidre Ferrer Abizanda, M. Josep Coll Rosell, Mercé Pineda Marfa, Victoria Cusí Sánchez, M. Mar García González, Laura Gort

Publikováno v: Journal of Child Neurology. 28:470-478

Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the clinical outcome and correlate with genotype in 12 Spanish patients with this disease. Psychomot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ce9b2986b52171a4ce5a91671c8e76
https://doi.org/10.1177/0883073812448459

[The atypical developments of rolandic epilepsy are predictable complications]

Autor: Gabriela, Pesántez-Ríos, Antonio, Martínez-Bermejo, Joaquín, Arcas, Milagros, Merino-Andreu, Arturo, Ugalde-Canitrot

Publikováno v: Revista de neurologia. 61(3)

The development of atypical features in rolandic epilepsy is part of a clinical spectrum of phenotypes that are variable, idiopathic and age-dependent, as well as having a genetically determined predisposition.To study the electroclinical characteris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8404f966fa11fe2d5f0dbf4dcb0732cd
https://pubmed.ncbi.nlm.nih.gov/26178515

Intermittent treatment with clonazepam in simple febrile seizures

Autor: Ignacio Pascual-Castroviejo, Antonio Martínez Bermejo, Valetin Lopez Martin, Luis Gonzales Gonzales, Joaquin Areas Martinez

Publikováno v: Braindevelopment. 12(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a98f3a0174d7e517b36fd1a00db394
https://pubmed.ncbi.nlm.nih.gov/2360705