Jonna Ebrahim-Komulainen

Oulu, Finland

Last Updated: 09/26/2026

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Found 19 publications

Neurologic and psychiatric symptoms and diseases in families of persons with epilepsy.

Neurologic and psychiatric symptoms and diseases in families of persons with epilepsy.

Journal: Epilepsy & behavior : E&B

Published: May 14, 2026

Correction: Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals.

Correction: Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals.

Journal: JMIR human factors

Published: June 22, 2025

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 27, 2024

Epilepsy care pathway: The Finnish model.

Epilepsy care pathway: The Finnish model.

Journal: Epilepsia open

Published: August 21, 2024

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.

Journal: Molecular genetics & genomic medicine

Published: April 25, 2024

Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals.

Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals.

Journal: JMIR human factors

Published: April 15, 2024

Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

Journal: Epilepsia open

Published: February 22, 2024

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.

Journal: Frontiers in molecular neuroscience

Published: January 18, 2024

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Journal: Movement disorders clinical practice

Published: October 17, 2023

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.

Journal: European journal of human genetics : EJHG

Published: July 11, 2023

Showing 1-12 of 19

Last Updated: 09/26/2026