Hannah Stamberger

Assessing and quantifying gait deviations in STXBP1-related disorder using three-dimensional gait analysis

M Swinnen, Lis Gys, Kim Marie Thalwitzer, Axel Deporte et autres

be, de (code pays fourni par la source)

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

James D. Mills, Susanna Pagni, Angeliki Vakrinou, Patrick B. Moloney et autres

gb, nl, be, it, au, nz, us, ca (code pays fourni par la source)

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

Sheng Tang, Hannah Stamberger, Jeffrey D. Calhoun, Sarah Weckhuysen et autres

us, be (code pays fourni par la source)

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

Amélie Cordovado, Yvan Herenger, Estrella López‐Martín, Hannah Stamberger et autres

fr, us, es, be (code pays fourni par la source)

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

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi, Quratulain Zulfiqar Ali et autres

us, il, ca, it, au, gb, tr, ag, fr, hk, de, lb, ps, ie, tw, fi, be, nz, lu, at (code pays fourni par la source)

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj et autres

us, gb, de, au, ie, ca, be, it, hk, lu, ch, cy, cz, at (code pays fourni par la source)

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

Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood et autres

au, es, de, se, fr, lb, sa, be, us, gb, ca, no, nl, pt (code pays fourni par la source)

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

Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia Bonardi et autres

be, ca (code pays fourni par la source)

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

Sathiyanarayanan Manivannan, Jolien Roovers, Noor Smal, Candace T. Myers et autres

us, be, tr, de (code pays fourni par la source)

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley et autres

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili et autres

de, lu (code pays fourni par la source)

Assessing the landscape of STXBP1 -related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura et autres

us, it, cn, gb, es, de, dk, nl, kr, be (code pays fourni par la source)