Alberto Fernández‐Jaén
A5028419671- Attention Deficit Hyperactivity Disorder
- Genetics and Neurodevelopmental Disorders
- Developmental and Educational Neuropsychology
- Genomics and Rare Diseases
- Congenital heart defects research
- Psychology Research and Bibliometrics
- Neural and Behavioral Psychology Studies
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Autism Spectrum Disorder Research
- Fetal and Pediatric Neurological Disorders
- Cerebrospinal fluid and hydrocephalus
- Neurogenetic and Muscular Disorders Research
- Vascular Malformations and Hemangiomas
- Epigenetics and DNA Methylation
- Ion channel regulation and function
- RNA regulation and disease
- Health and Lifestyle Studies
- Genomics and Chromatin Dynamics
- Migraine and Headache Studies
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Children's Physical and Motor Development
- Functional Brain Connectivity Studies
- Cardiovascular Syncope and Autonomic Disorders
Hospital Universitario Quirónsalud Madrid
2016-2025
Universidad Europea
2016-2025
Istituto Giannina Gaslini
2021
University of Genoa
2021
Universidad Autónoma de Madrid
1998-2016
Universidad Rey Juan Carlos
2016
Centro Español de Investigación Farmacoepidemiológica
2016
Hospital La Luz
2001-2009
Hospital Universitario Sanitas La Zarzuela
2001-2008
Hospital Universitario La Paz
1997-2007
Although both emotion and response inhibition are thought to be important in attention-deficit/hyperactivity disorder (ADHD), little is known about the neural mechanisms that underlie interaction between these two processes patients with this disorder. This study aimed at examining how emotional contexts affect inhibitory control children ADHD.A total of 24 ADHD healthy comparison subjects performed a modified go/no-go task during three different emotionally laden contexts: negative, neutral...
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific gives rise to recognizable intellectual disability syndrome. There is distinctive facial appearance (19/19), characterized by full and arched eyebrows, hypertelorism downslanting palpebral fissures, long eye lashes, ptosis, low set simple ears, bulbous nasal tip, wide mouth downturned corners thin upper lip an unusual "wavy" profile, flat philtrum, diastema of the teeth. Intellectual disability,...
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with strong genetic component. An excess likely gene-disruptive (LGD) mutations in GIGYF1 was implicated ASD. Here, we report that is the second-most mutated gene among known ASD high-confidence risk genes. We investigated inheritance 46 LGD variants, including highly recurrent mutation c.333del:p.L111Rfs*234. Inherited heterozygous variants were 1.8 times more common than de novo mutations. Among individuals...
Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental condition in childhood (5.3% to 7.1% worldwide prevalence), with substantial overall financial burden children/adolescents, their families, and society. The aims of this study were describe the clinical characteristics children adolescents ADHD Spain, estimate associated direct/indirect costs disorder, assess whether differed between children/adolescents adequately responding currently available pharmacotherapies...
Significance Axon initial segments of vertebrate neurons integrate thousands dendritic inputs and generate a single outgoing action potential. Giant ankyrin-G associates with most the molecular components axon is required for their assembly. This study identified 3 human mutations giant resulting in impaired neurodevelopment compound heterozygotes. These prevent transition from closed to an open conformation, which normally regulated by phosphorylation during maturation segments. thus...
Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic detailed phenotypic information on 23 newly identified families simplex cases that include 19 affected females from 18 14 males nine families. Of note, 15 deleterious de novo ZC4H2 presented phenotypes ranging mild to severe, their clinical...
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 AKS (26 previously unpublished), including 13 missense variants. We propose new clinical diagnostic criteria for that differentiate it from the clinically overlapping Kabuki describe significant phenotypic expansion to include who present subtle...
Abstract Background Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), phospholipid scramblase and ion channel. We previously reported patients were heterozygous for the ANO3 variants S651N, V561L, A599D which cause dystonia unknown mechanisms. Methods applied electrophysiology, Ca 2+ measurements cell biological methods to analyze molecular mechanisms lead aberrant intracellular signals defective activation of K +...
ABSTRACT Background Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4‐year‐old boy presenting psychomotor regression, spasticity, and dystonic postures. Methods Results Trio‐based whole exome sequencing revealed two previously unreported loss‐of‐function gene. Brain magnetic resonance imaging (MRI) findings included corpus callosum hypoplasia, white matter hypomyelination, alterations globus pallidi, alongside markedly reduced cortical...
Abstract Aim Loss‐of‐function KCNMA1 variants cause Liang–Wang syndrome (MIM #618729), a newly identified multiple malformation with broad spectrum of developmental and neurological phenotypes. However, the full clinical features underlying pathogenic mechanisms need elucidation. Methods Exome sequencing was used to identify variants. Patch‐clamp recordings were performed access effects on BK channels. Total membrane protein expression levels channels characterized using Western blotting....
Abstract SLITRK2 is a single-pass transmembrane protein expressed at postsynaptic neurons that regulates neurite outgrowth and excitatory synapse maintenance. In the present study, we report on rare variants (one nonsense six missense variants) in X chromosome identified by exome sequencing individuals with neurodevelopmental disorders. Functional studies showed some displayed impaired membrane transport synapse-promoting effects. Strikingly, these variations abolished ability of wild-type...
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) electroencephalograms (EEG), potential biomarkers have been postulated, including changes background activity, fixation-off sensitivity (FOS) or eye closure (ECS). In this study we clinically evaluate new cohort 36 SYNGAP1-DEE individuals. Standardized questionnaires were...
Background: The Internet is increasingly used as a source of health-related information. objective this study was to assess the quality web-based information on treatments for attention-deficit/hyperactivity disorder (ADHD). Methods: Sixteen expert health professionals in ADHD and 35 parents paediatric patients with recent diagnosis assessed contained 10 highest ranked websites Spanish, using Spanish version DISCERN tool - validated questionnaire designed reliability treatment choices...
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case a 1.607 Mb duplication at (chr3: 195,731,956–197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This involves 22 genes; PAK2, DLG1, BDH1 , FBXO45 are implicated in neuronal development synaptic function could play an important role syndrome. propose considering genetic studies,...