Anna‐Elina Lehesjoki

Research interests

Publications

• The spectrum of intermediate SCN 8A‐related epilepsy

  Epilepsia · 2019 · https://doi.org/10.1111/epi.14705

• A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

  The American Journal of Human Genetics · 2019 · https://doi.org/10.1016/j.ajhg.2019.04.001

• Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

  The American Journal of Human Genetics · 2018 · https://doi.org/10.1016/j.ajhg.2018.10.023

• Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

  Nature Communications · 2018 · https://doi.org/10.1038/s41467-018-07524-z

• Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

  Neuron · 2018 · 10.1016/j.neuron.2018.07.052

• Defining the phenotypic spectrum of SLC6A1 mutations

  Epilepsia · 2018 · https://doi.org/10.1111/epi.13986

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

  Journal of Medical Genetics · 2017 · 10.1136/jmedgenet-2016-104509

• CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001305

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · 10.1212/wnl.0000000000001211

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.2952

• De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

  The American Journal of Human Genetics · 2014 · 10.1016/j.ajhg.2014.08.013

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Nature Genetics · 2014 · 10.1038/ng.3144

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.09.017

• WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

  New England Journal of Medicine · 2013 · https://doi.org/10.1056/nejmoa1215458

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2728

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

  Human Molecular Genetics · 2012 · https://doi.org/10.1093/hmg/dds373

• Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

  The American Journal of Human Genetics · 2012 · 10.1016/j.ajhg.2012.02.002

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

  Human Mutation · 2011 · https://doi.org/10.1002/humu.21624

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

  Neurology · 2010 · 10.1212/wnl.0b013e3181f8812e

• The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

  The American Journal of Human Genetics · 2007 · 10.1086/518902

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

  Nature Genetics · 2005 · https://doi.org/10.1038/ng1677

• 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

  The American Journal of Human Genetics · 2003 · https://doi.org/10.1086/375454

• Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

  Journal of Medical Genetics · 2003 · 10.1136/jmg.40.4.233

• Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

  The American Journal of Human Genetics · 2002 · 10.1086/342975

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

  European Journal of Human Genetics · 2002 · 10.1038/sj.ejhg.5200831

• Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

  The American Journal of Human Genetics · 2001 · https://doi.org/10.1086/323610

• Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease

  Neurology · 2001 · 10.1212/wnl.56.8.1059

• Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

  Nature Genetics · 2000 · https://doi.org/10.1038/77053

• The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

  Nature Genetics · 1999 · https://doi.org/10.1038/13868

• Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

  Nature Genetics · 1997 · 10.1038/ng0497-393

• Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

  Science · 1996 · https://doi.org/10.1126/science.271.5256.1731

Current projects

No projects listed.