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Helbig, Katherine L.

https://orcid.org/0000-0001-8249-0549

A5018778532 | I1294671590

Mayo Clinic

Centre National de la Recherche Scientifique

Citations 3

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available

10.1126/sciadv.abc9207 | PMID 33268356

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Brain | September 26, 2018 | Volume: 141 | Issue: 11 | Pages: 3160-3178

10.1093/brain/awy263 | PMID 30351409

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Brain | February 23, 2017 | Volume: 140 | Issue: 5 | Pages: 1316-1336

10.1093/brain/awx054 | PMID 28379373