Terkko Navigator / Lehesjoki, A(nna)-E(lina)*

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Microglial phagocytosis dysfunction in the dentate gyrus is related to local neuronal activity in a genetic model of epilepsy

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Genetic heterogeneity in infantile spasms

The spectrum of intermediate SCN8A-related epilepsy

Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease

Rare gene deletions in genetic generalized and Rolandic epilepsies

Sodium Channel SCN3A (Na_V1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

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

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases

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

Defining the phenotypic spectrum of SLC6A1 mutations

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

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

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties

<em>GRIN2B</em> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

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

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

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

Brain inflammation is accompanied by peripheral inflammation in Cstb ^-/- mice, a model for progressive myoclonus epilepsy

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

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

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

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

Pitfalls in genetic testing: the story of missed SCN1A mutations

Progressive myoclonus epilepsy associated with SACS gene mutations

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

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

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

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

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

BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

Investigation of GRIN2A in common epilepsy phenotypes

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

CHD2 variants are a risk factor for photosensitivity in epilepsy

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

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

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1

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

Leukoencephalopathy, cerebral calcifications and cysts: a family study

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study

Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation

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