Anna‐Elina Lehesjoki
A5042806203- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Neurological disorders and treatments
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Neonatal Health and Biochemistry
- Diet and metabolism studies
- Cellular transport and secretion
- Neurological and metabolic disorders
- Biochemical and Molecular Research
- Dermatological and Skeletal Disorders
- RNA modifications and cancer
- Pancreatic function and diabetes
- Genetic and Kidney Cyst Diseases
- Autoimmune Neurological Disorders and Treatments
University of Helsinki
2015-2024
Folkhälsans Forskningscentrum
2015-2024
Research Network (United States)
2023
Fondazione IRCCS Istituto Neurologico Carlo Besta
2016-2021
University of Genoa
2021
Magna Graecia University
2021
Istituto delle Scienze Neurologiche di Bologna
2021
Istituti di Ricovero e Cura a Carattere Scientifico
2021
Helsinki Art Museum
2020
Cleveland Clinic Lerner College of Medicine
2020
Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is an autosomal recessive inherited form epilepsy, previously linked to human chromosome 21q22.3. The gene encoding cystatin B was shown be localized this region, and levels messenger RNA encoded by were found decreased in cells from affected individuals. Two mutations, a 3′ splice site mutation stop codon mutation, identified EPM1 patients but not present unaffected These results provide evidence that mutations are...
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report genome-wide mega-analysis involving 15,212 individuals with epilepsy 29,677 controls, which reveals 16 significant loci, of 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely genes at these majority in genetic generalized epilepsies. These diverse biological functions, including coding for ion-channel subunits, transcription factors...
This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation WNT1, c.652T→G (p.Cys218Gly). separate 2 siblings affected by recessive osteogenesis imperfecta, homozygous nonsense mutation, c.884C→A, p.Ser295*. vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. mice,...
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% all epilepsies. Despite their high heritability 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out two-stage genome-wide association study (GWAS) including 3020 patients with 3954 controls European ancestry. dissect syndrome-related variants, also explored two distinct subgroups comprising 1434...
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum a larger cohort of SCL6A1 ‐mutated patients. Methods collected 24 probands 6 affected family members. Four previously published cases included for further electroclinical description. In total, we reviewed data 34 subjects. Results Cognitive development was impaired 33/34 (97%) subjects; 28/34 had...
Population-based studies on infantile epilepsy syndromes are scarce. Our aim was to provide syndrome-specific data the incidence and outcome of in a population-based cohort infants with onset first year.Included were all born 1997 through 2006 whose epileptic seizures started before 12 months age who residents Helsinki University Hospital district at time seizure onset. Patients ascertained from hospital statistics, patient charts reviewed. A reevaluation syndromes, onset, etiology, 24 based...
Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies variable severity. Furthermore, few patients intellectual disability (ID) or movement disorders without reported. The vast majority the published suffer severe developmental and encephalopathy (DEE). In this study, we aimed provide further insight on milder SCN8A-related epilepsies.A cohort 1095 were screened using...
The progressive myoclonus epilepsies, featuring the triad of myoclonus, seizures, and ataxia, comprise a large group inherited neurodegenerative diseases that remain poorly understood refractory to treatment. Cystatin B gene is mutated in one most common forms epilepsy, Unverricht–Lundborg disease (EPM1). knockout mouse model EPM1 triggers degeneration cerebellar granule neurons. Here, we report impaired redox homeostasis as key mechanism by which deficiency neurodegeneration. Oxidative...