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.

GeneReviews®

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 (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Rare coding variants in genes encoding GABAA 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.

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

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

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

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.