Hannah Stamberger

Antwerpen, VLG, Belgium

Last Updated: 09/26/2026

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Found 26 publications

SUDEP risk is influenced by longevity genomics: a polygenic risk score study.

SUDEP risk is influenced by longevity genomics: a polygenic risk score study.

Journal: EBioMedicine
Published: February 19, 2025

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.

Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.

Journal: JCI insight
Published: October 29, 2024

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Journal: Human mutation
Published: June 30, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Journal: Molecular psychiatry
Published: April 05, 2022

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Journal: Neurology
Published: June 22, 2021

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Journal: Brain : a journal of neurology
Published: June 14, 2021

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Journal: Brain : a journal of neurology
Published: March 30, 2021

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 08, 2020

RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

Journal: Neurology
Published: May 05, 2020

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Journal: Brain : a journal of neurology
Published: March 21, 2020

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Journal: NPJ genomic medicine
Published: May 31, 2019
Showing 1-12 of 26

Last Updated: 09/26/2026