List of works by Steffen Syrbe

Assessing the landscape of STXBP1-related disorders in 534 individuals

scientific article published on 01 June 2022

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

scientific article published in 2022

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

scientific article published on 21 October 2020

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

scientific article published on 01 August 2020

Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

scientific article published on 24 November 2021

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