Elisa Rahikkala
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View article: A Novel Homozygous <i>KIF1C</i> Variant in 2 Cases of Spastic Ataxia Type 2
A Novel Homozygous <i>KIF1C</i> Variant in 2 Cases of Spastic Ataxia Type 2 Open
Classification of pathogenicity requires extensive multidisciplinary effort, which can be burdensome for affected individuals and families. Like other proteins of the kinesin family, variants in KIF1C may underlie retinal dysfunction.
View article: <i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current Open
The Na + leak channel NALCN regulates the resting membrane potential and consequently cell excitability of several cell types, including neurons. Studies of animal models demonstrated that NALCN is involved in fundamental physiological fun…
View article: Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes Open
View article: AUTS2-related syndrome: Insights from a large European cohort
AUTS2-related syndrome: Insights from a large European cohort Open
View article: Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings Open
Leigh syndrome is the most common phenotype of mitochondrial disorders in children. This study demonstrates clinical, neuroradiological, and molecular genetic findings in siblings with Leigh syndrome and isolated complex I assembly defect …
View article: Natural history of adults with KBG syndrome: A physician-reported experience
Natural history of adults with KBG syndrome: A physician-reported experience Open
View article: A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion Open
The potassium-chloride co-transporter 2, KCC2, is a neuron-specific ion transporter that plays a multifunctional role in neuronal development. In mature neurons, KCC2 maintains a low enough intracellular chloride concentration essential fo…
View article: Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability Open
View article: Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome Open
Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is caused by heterozygous small-nucleotide variants (SNVs) and copy-number variants (CN…
View article: Report of a Novel Homozygous Intragenic <i>DCC</i> Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome
Report of a Novel Homozygous Intragenic <i>DCC</i> Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome Open
Introduction: Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic bia…
View article: Supplementary Material for: Report of a novel homozygous intragenic DCC duplication and a review of literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with impaired Intellectual Development syndrome
Supplementary Material for: Report of a novel homozygous intragenic DCC duplication and a review of literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with impaired Intellectual Development syndrome Open
Introduction Horizontal Gaze Palsy with Progressive Scoliosis-2 with impaired Intellectual Development aka developmental split-brain syndrome (HGPPS2, MIM 617542) is an ultra rare congenital disorder caused by pathogenic biallelic variants…
View article: <scp>ATM</scp> c.<scp>7570G</scp>>C is a high‐risk allele for breast cancer
<span>ATM</span> c.<span>7570G</span>>C is a high‐risk allele for breast cancer Open
ATM is generally described as a moderate‐risk breast cancer susceptibility gene. However, some of ATM variants might encounter higher risk. ATM c.7570G>C, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for re…
View article: Pathogenic REST variant causing Jones syndrome and a review of the literature
Pathogenic REST variant causing Jones syndrome and a review of the literature Open
Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the second decade of life. Here, we report a father and his two daughters pres…
View article: Psychiatric symptoms in Salla disease
Psychiatric symptoms in Salla disease Open
Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological spectrum of SD’s clinical phenotype is well …
View article: Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched <i>CABP2</i> c.637+1G>T variant
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched <i>CABP2</i> c.637+1G>T variant Open
Background The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate‐to‐severe hearing impairment. Methods Exome and …
View article: A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development Open
View article: Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland Open
Aim To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland. Method A longitudinal population‐based cohort study was conducted in the tert…
View article: LBSL
LBSL Open
DARS2 variants are associated with highly heterogeneous phenotypes. New MRI presentations are profound cerebral hypoplasia/atrophy and white matter abnormalities without long tract involvement. Our findings have implications for dia…
View article: Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction Open
View article: Suomalainen tautiperintö laajenee - aivojen paksupoimuisuutta aiheuttava CRADD-geenin mutaatio on rikastunut väestöömme
Suomalainen tautiperintö laajenee - aivojen paksupoimuisuutta aiheuttava CRADD-geenin mutaatio on rikastunut väestöömme Open
View article: Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population Open
View article: De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders Open
View article: Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders
Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders Open
View article: Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland Open
The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of milder ID we studied 442 ID patients enriche…
View article: Microdeletion of 7p12.1p13, including <i><scp>IKZF</scp>1</i>, causes intellectual impairment, overgrowth, and susceptibility to leukaemia
Microdeletion of 7p12.1p13, including <i><span>IKZF</span>1</i>, causes intellectual impairment, overgrowth, and susceptibility to leukaemia Open
Cancer predisposition syndromes are caused by rare, germline variants in specific genes or by constitutional chromosomal aberrations. Recently, germline variants of IKZF1 have been associated with B cell deficiency, hypogammaglobulinaemia …
View article: Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland
Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland Open
The contribution of de novo and ultra-rare genetic variants in severe and moderate intellectual disability (ID) has been extensively studied whereas the genetic architecture of mild ID has been less well characterized. To elucidate the gen…
View article: Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT Open
View article: Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations
Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations Open
The neurologic phenotype of this syndrome is defined by balance or gait impairment, nystagmus, hyperreflexia in the lower limbs and, frequently, marked cerebellar atrophy. Paracentral retinal dysfunction may contribute to glare, reading pr…
View article: Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms Open
Key Points Autosomal-dominant SAMD9L gain-of-function mutations predispose to myeloid malignancies involving chromosome 7 aberrations. Hematopoietic reversions frequently occur postnatally and are associated with milder disease manifestati…
View article: ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä
ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä Open