J. García-Peñas

发表

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

C. Pérez-Cerdá, J. Pié, N. Casals, 1998, Archives of biochemistry and biophysics.

Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12‐month GENERAL study

J. García-Peñas, J. Miró, M. Falip, 2018, Epilepsia.

Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome.

A. Duat‐Rodríguez, J. García-Peñas, V. Cantarín-Extremera, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome.

I. Pascual-Castroviejo, J. García-Peñas, S. Pascual-Pascual, 1996, AJNR. American journal of neuroradiology.

Reticulated pigmentary changes in a patient with a variant form of Lesch–Nyhan disease

J. García-Peñas, A. Torrelo, Á. Hernández-Martín, 2012, Clinical and experimental dermatology.

[New anti-epileptic drugs in Paediatrics].

J. García-Peñas, R. Sanchez-Carpintero, I. Málaga, 2019, Anales de pediatria.

Continuous giggling and autistic disorder associated with hypothalamic hamartoma.

J. García-Peñas, M. Carreno, Á. Pérez-Jiménez, 2003, Epileptic disorders : international epilepsy journal with videotape.

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene

J. Serratosa, J. García-Peñas, P. Gómez-Garre, 2014, Epilepsy Research.

Macrophagic myofasciitis in childhood: a controversial entity.

J. García-Peñas, E. Rivas, A. Ferreiro, 2005, Pediatric neurology.

Hemicerebellitis: Report of three paediatric cases and review of the literature.

A. Duat Rodríguez, J. García-Peñas, K. Khabra, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study

J. García-Peñas, A. Gil-Nagel, R. Sanchez-Carpintero, 2022, Frontiers in Neurology.

New anti-epileptic drugs in paediatrics

J. García-Peñas, R. Sanchez-Carpintero, S. Roldán, 2019, Anales de Pediatría (English Edition).

Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita

J. García-Peñas, A. Torrelo, L. Noguera‐Morel, 2015, Pediatric dermatology.

Use of carglumic acid in valproate‐induced hyperammonemia: 25 pediatric cases

J. García-Peñas, Álvaro Martín-Rivada, C. Pedrón‐Giner, 2020, JIMD reports.

Incontinentia pigmenti: MR demonstration of brain changes.

J. García-Peñas, V. Martínez Fernández, M. Roche, 1994, AJNR. American journal of neuroradiology.

[Reversible alterations in the neuroimages associated with vigabatrine treatment in infants with epileptic spasms].

J. García-Peñas, M. Fernandez-Garcia, E. García-Esparza, 2017, Revista de neurologia.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

[Cerebral malaria in children].

J. García-Peñas, L. Gutiérrez-Solana, M. Ruiz-Falcó, 2000, Revista de neurologia.

[Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process].

J. García-Peñas, A. García-Ron, Ignacio Málaga, 2013, Revista de neurología (Ed. impresa).

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

J. García-Peñas, X. Altafaj, R. Cancho, 2021, International journal of molecular sciences.

Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort

R. Toledano, J. García-Peñas, T. Benke, 2021, Epilepsy & Behavior.

Clinical, polysomnographic and laboratory characteristics of narcolepsy-cataplexy in a sample of children and adolescents.

J. García-Peñas, J. Vicario, P. López-Esteban, 2011, Sleep medicine.

[Characteristics and evolution of patients with Alice in Wonderland syndrome].

A. Duat‐Rodríguez, J. García-Peñas, V. Cantarín-Extremera, 2011, Revista de neurología (Ed. impresa).

Phenytoin-induced visual disturbances mimicking Delirium Tremens in a child.

J. García-Peñas, L. Gutiérrez-Solana, L. L. Marín, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Facial capillary malformation and Dyke-Davidoff-Masson syndrome.

A. Duat‐Rodríguez, J. García-Peñas, A. Torrelo, 2010, Pediatric neurology.

Emergency implementation of telemedicine for epilepsy in Spain: Results of a survey during SARS-CoV-2 pandemic

J. Serratosa, J. García-Peñas, A. Donaire, 2020, Epilepsy & Behavior.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

M. Castro‐Gago, J. García-Peñas, J. Arenas, 1998, Neuromuscular Disorders.

Malignant Atrophic Papulosis: A Case Report with Severe Visual and Neurological Impairment

J. García-Peñas, A. Torrelo, Á. Hernández-Martín, 2011, Pediatric dermatology.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.