List of works - Anna-Elina Lehesjoki

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

scientific article

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

scientific article

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

scientific article

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

scientific article published on March 2015

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

scientific article published on 20 August 2016

Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

scientific article published on 24 March 2009

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

scientific article

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

scientific article published on 17 August 2016

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

scientific article published on 2 May 2006

Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing

scientific article

Clinical features and genetics of Unverricht-Lundborg disease.

scientific article

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

scientific article published on May 2, 2003

Cohen syndrome in the Ohio Amish.

scientific article published in July 2004

Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures

scientific article published in April 2002

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

scientific journal article

Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes

scientific article published in August 2003

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

scientific article

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis

scientific article published on 13 September 2011

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Digenic mutations in severe myoclonic epilepsy of infancy

scientific article

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings

scientific article published on 28 June 2013

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

scientific article

Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.

scientific article

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

scientific article

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

scientific article

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

scientific article

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

scientific article published on 15 September 2009

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas.

scientific article published on 27 March 2009

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

scientific article published on 6 November 2015

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

scientific article

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

scientific article

Investigation of GRIN2A in common epilepsy phenotypes

scientific article published on 2 June 2015

Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

scientific article published on 20 January 2018

Leukoencephalopathy, cerebral calcifications and cysts: a family study

scientific article published on 18 July 2014

Linkage and association analysis of CACNG3 in childhood absence epilepsy

scientific article

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

scientific article

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

scientific article published on 06 June 2017

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

scientific article

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

scientific article

Molecular background of EPM1-Unverricht-Lundborg disease

scientific article

Molecular background of progressive myoclonus epilepsy

scientific article

Molecular genetics of the NCLs -- status and perspectives

scientific article

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

scientific article

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

scientific article

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

Mutations in prickle orthologs cause seizures in flies, mice, and humans

scientific article

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study

scientific article published on 15 September 2005

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome

scientific article published on 20 February 2008

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

scientific article published on 2 September 2008

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

scientific article

Novel mutations in the TRIM37 gene in Mulibrey Nanism

scientific article

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

scientific article published on 09 January 2013

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Progressive myoclonus epilepsy associated with SACS gene mutations

scientific article published on 23 June 2016

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

scientific article

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study

scientific article published on 13 March 2015

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

scientific article

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain ⬇️

scientific article published on October 19, 2010

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

scientific article

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

scientific article published on 26 June 2015

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

scientific article published on April 2005

Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

scientific article

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

scientific article published on 23 March 2016

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

scientific article published on 14 November 2009

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

scientific article

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

scientific article

The GENCODE exome: sequencing the complete human exome

scientific article

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

scientific article

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

scientific article

The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

scientific article

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

scientific article

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues

scientific article published on 3 March 2006

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

scientific article

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

scientific article published on 03 April 2016

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

scientific article

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

scientific article

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

scientific article

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

scientific article published on May 2013

White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice

scientific article published on 20 June 2013

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

scientific article published on March 2017

List of works by Anna-Elina Lehesjoki

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

CHD2 variants are a risk factor for photosensitivity in epilepsy

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

Characterisation of the mulibrey nanism-associated TRIM37 gene: transcription initiation, promoter region and alternative splicing

Clinical features and genetics of Unverricht-Lundborg disease.

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

Cohen syndrome in the Ohio Amish.

Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures

Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1

Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis

Defining the phenotypic spectrum of SLC6A1 mutations

Digenic mutations in severe myoclonic epilepsy of infancy

Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia

Genetic heterogeneity in infantile spasms

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas.

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37

Investigation of GRIN2A in common epilepsy phenotypes

Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

Leukoencephalopathy, cerebral calcifications and cysts: a family study

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

Molecular background of EPM1-Unverricht-Lundborg disease

Molecular background of progressive myoclonus epilepsy

Molecular genetics of the NCLs -- status and perspectives

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Mutations in prickle orthologs cause seizures in flies, mice, and humans

Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Novel mutations in the TRIM37 gene in Mulibrey Nanism

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

Pitfalls in genetic testing: the story of missed SCN1A mutations

Progressive myoclonus epilepsy associated with SACS gene mutations

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain ⬇️

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

Sodium Channel SCN3A (Na1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

The GENCODE exome: sequencing the complete human exome

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder