Tarja Linnankivi
A5023116117- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Genetic and Kidney Cyst Diseases
- Retinal and Macular Surgery
- Congenital heart defects research
- Ocular Oncology and Treatments
- Retinal Development and Disorders
- Neonatal and fetal brain pathology
- Retinal Diseases and Treatments
- RNA Research and Splicing
- Neuroinflammation and Neurodegeneration Mechanisms
- Moyamoya disease diagnosis and treatment
- Neuroscience and Neuropharmacology Research
- Prenatal Screening and Diagnostics
- ATP Synthase and ATPases Research
- Hedgehog Signaling Pathway Studies
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Neurological Disease Mechanisms and Treatments
- Chromosomal and Genetic Variations
Helsinki University Hospital
2016-2025
University of Helsinki
2016-2025
Helsinki Children's Hospital
2009-2023
Children's Hospital
2009-2021
Cleveland Clinic Lerner College of Medicine
2020
Imaging Center
2006-2015
Pediatrics and Genetics
2015
Yale University
2015
Institute for Molecular Medicine Finland
2015
University of Amsterdam
2015
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1 , RNASEH2A RNASEH2B RNASEH2C SAMHD1 ADAR or IFIH1 . We report on 374 patients from 299 families with these seven genes. Most conformed one two fairly stereotyped clinical profiles; either exhibiting utero disease‐onset (74 patients; 22.8% all where data were available), a post‐natal presentation, usually within the first year life (223 68.6%), characterized by sub‐acute encephalopathy and loss...
<h3>Background</h3> We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects <i>GRIN2B</i> encephalopathy explored potential prospects personalised medicine. <h3>Methods</h3> Data 48 individuals with de novo variants were collected from several diagnostic research cohorts, as well 43 patients the literature. Functional consequences response to memantine treatment investigated in vitro eventually translated into patient care. <h3>Results</h3> Overall, 86...
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...
Cerebral folate transport deficiency is an inherited brain-specific defect that caused by mutations in the receptor 1 gene coding for alpha (FRα). This genetic gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children low 5-methyltetrahydrofolate concentrations cerebrospinal fluid and symptoms developed after infancy. identified nucleotide alterations 10 individuals who shared developmental regression, ataxia, profound cerebral hypomyelination...
Leukoencephalopathy with brainstem and spinal cord involvement lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that phenotypic range of disease much wider than initially thought. Currently, no treatment available. The aims our study were (i) to explore possible genotype–phenotype correlation; (ii) identify potential therapeutic agents modulate splice site intron 2 present...
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...
We aimed to decipher the molecular genetic basis of disease in a cohort children with uniform clinical presentation neonatal irritability, spastic or dystonic quadriplegia, virtually absent psychomotor development, axonal neuropathy, and elevated blood/CSF lactate.We performed whole-exome sequencing blood DNA from index patients. Detected compound heterozygous mutations were confirmed by Sanger sequencing. Structural predictions bacterial activity assay evaluate functional consequences...
Abstract The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be interest to study (ID) and the contribution ARID. Here, we used a genotype-driven approach genetic landscape ID population Finland. A total 39 families with syndromic non-syndromic were analyzed using exome sequencing, which revealed variant known gene 27 families. Notably, 75% these variants genes de novo or suspected (64%...
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<b>Background: </b> Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus with cysts. In the latter, a progressive formation of parenchymal brain cysts is special feature, whereas characterized by intrauterine growth retardation, bilateral retinal telangiectasias exudations (Coats disease), sparse hair, dysplastic nails without cyst formation. <b>Methods: We identified 13 patients, including pairs siblings, extensive...
Abstract We studied 14 individuals with partial deletions of the long arm chromosome 18, including terminal and interstitial de novo inherited deletions. Study participants were examined clinically by brain MRI. The size deletion was determined segregation analysis using microsatellite markers. observed that phenotype highly variable, even in two families three 1st degree relatives. Among individuals, general intelligence varied from normal to severe mental retardation. more common features...
<h3>Background</h3> Leucoencephalopathy with brain stem and spinal cord involvement high lactate (LBSL) was first defined by characteristic magnetic resonance imaging spectroscopic findings. The clinical features include childhood or juvenile onset slowly progressive ataxia, spasticity, dorsal column dysfunction, occasionally accompanied learning difficulties. Mutations in <i>DARS2</i>, encoding mitochondrial aspartyl-tRNA synthetase, were recently shown to cause LBSL. signs symptoms show...
Objective: Mitochondrial DNA polymerase γ ( POLG1 ) mutations in children often manifest as Alpers syndrome, whereas adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy. Because some patients MIRAS have presented or epilepsy already childhood, we searched for neurologic manifestations childhood. Methods: We investigated 136 children, all clinically suspected to disease, one more of the following: ataxia, axonal neuropathy, without known...
Abstract Objective Infantile seizures cause great concern for both doctors and parents. In addition to modern neuroimaging genetics, clinical tools helpful in predicting the course of disease are needed. We prospectively studied incidence, electroclinical characteristics etiologies epilepsy syndromes with onset before age 12 months looked prognostic determinants outcome by 24 months. Methods From February 2017 through May 2019, we recruited all eligible infants diagnosed at our unit. Data on...
Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. Only few patients have been described. We report on 11 additional new MRI findings provide histopathologic confirmation interpretation.We reviewed patients' clinical history present findings. scored abnormalities. The histopathology one patient was re-examined.The early psychomotor development normal or delayed, followed by increasing extrapyramidal movement abnormalities, ataxia, spasticity....
Variants in SCN8A are associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as predominant symptom variation has not been well studied. We set out to investigate disease mechanisms genotype-phenotype correlations SCN8A-related ataxia.