Alberto Fernández Jaen
Alberto Fernández Jaen
Neurologist Specialist
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Key information
- Latest Publication:A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.
Professional Details
Hospital Universitario Quirónsalud Madrid
SPECIALIST PHYSICIAN NEUROLOGY
January 2024
Olympia Centro Médico Pozuelo
SPECIALIST PHYSICIAN NEUROLOGY
September 2025
Hospital Universitario Quirónsalud Madrid
Associate Head of the Neurology Service
Hospital Universitario Quirónsalud Madrid
Head of the Child Neurology Service
Fundación Educación Activa y Centros CADE
Head of service
Hospital Universitario Quirónsalud Madrid
Head of the Neurogenetics Section
Study
Bachelor of Medicine and Surgery
university, Universidad Autónoma de Madrid
Doctorate
Universidad Europea de Madrid
Specialized Healthcare Training
Specialist in Child Neurology
Another qualification
Master's Degree in Psychology
university
Master's degree in ADHD
Universidad de Vic
Master's Degree in Child and Adolescent Psychiatry (Neuroimaging and Genetics)
Universidad de Barcelona
Master's Degree in Pediatric Neurology and Neurodevelopment
Universidad CEU de Madrid
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.
Article
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression.
Case Reports, Journal Article
ANO3 and early-onset dyskinetic encephalopathy.
Article
Attention-deficit/hyperactivity disorder and lifestyle habits in children and adolescents.
Article
Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
Journal Article
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Journal Article
De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.
Article
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Article
DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems.
Letter
Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum.
Article
Epilepsy and electroencephalograhic abnormalities in SATB2-Associated syndrome.
Article
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Journal Article
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Journal Article
Genetic studies and neurodevelopment: from effectiveness to genetic models.
Article
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
Journal Article, Research Support, Non-U.S. Govt
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Journal Article
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly.
Article
New developments in the treatment of ADHD.
Article
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Govt
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Govt
The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood.
Journal Article
The variability of SMARCA4-related Coffin-Siris syndrome: do nonsense candidate variants add to milder phenotypes?
Article
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Hospital Universitario Quirónsalud Madrid
C/ Diego de Velázquez, 1
28223 Pozuelo de Alarcón Madrid
Olympia Centro Médico Pozuelo
Avenida de Europa, 26 (Edificio Ática 1)
28224 Pozuelo de Alarcón Madrid
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Últimas colaboraciones en tucanaldesalud.com Alberto Fernández Jaen
Artículos, entrevistas o vídeos en los que ha colaborado
- Canal ciencia
Diagnóstico genético de enfermedades neurológicas infantiles
El análisis del genoma completo ayuda a conocer estos trastornos y a mejorar su tratamiento
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