Most cited papers from FamilieSCN2A Foundation

FamilieSCN2A Foundation

What are the most cited papers from FamilieSCN2A Foundation?

The most cited paper from FamilieSCN2A Foundation is "Progress in Understanding and Treating SCN2A-Mediated Disorders" (Stephan Sanders et al., 2018), with 358 citations. Next come "SCN2A ‐Developmental and Epileptic Encephalopathies: Challenges to trial‐readiness for non‐seizure outcomes" (59) and "Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders" (44).

Published TypeFieldAccess

Showing 14 of 14 papers. Every paper is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Progress in Understanding and Treating SCN2A-Mediated Disorders Stephan Sanders et al. · Trends in Neurosciences ReviewOpen access	23 Apr 2018	358
2	SCN2A ‐Developmental and Epileptic Encephalopathies: Challenges to trial‐readiness for non‐seizure outcomes Anne T. Berg, Hannah Palac, Greta N. Wilkening et al. · Epilepsia	25 Nov 2020	59
3	Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders Anne T. Berg, Christopher H. Thompson, Leah Schust Myers et al. · Brain Open access	23 Apr 2024	44
4	Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms Zhixiong Ma, Muriel Eaton, Yushuang Liu et al. · Neurobiology of Disease Open access	14 Mar 2022	36
5	Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies Stacey R. Cohen, Ingo Helbig, Michael C. Kaufman et al. · Developmental Medicine & Child Neurology Open access	28 Feb 2022	35
6	What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy Jenny Anne Downs, Natasha N. Ludwig, Mary Wojnaroski et al. · Quality of Life Research Open access	8 Dec 2023	23
7	Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder Natasha N. Ludwig, Mary Wojnaroski, Stacy J. Suskauer et al. · Epilepsy & Behavior	20 Sep 2024	10
8	The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy Günes Sevinc, Kari Knox, Michelle George et al. · Value in Health Open access	27 Dec 2024	6
9	Enhancing Rare Disease Education through AI-Driven Podcast Generation Eduardo Pérez‐Palma et al. · medRxiv PreprintOpen access	28 Jan 2025	4
10	American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy Daniel Freedman, Ifeoluwa Babatunde, Rebecca L. Morgan et al. · Epiliepsy currents/Epilepsy currents Open access	8 Apr 2026	3
11	A patient organization perspective: charting the course to a cure for SCN2A-related disorders Leah F. Schust, Jennifer Burke, Christina SanInocencio et al. · Therapeutic Advances in Rare Disease Open access	2024	3
12	Gross Motor Function in Individuals With SCN2A-Related Disorders Anne T. Berg, Aaron James Kaat, Katherine C. Paltell et al. · Neurology Clinical Practice Open access	2 May 2025	2
13	Advancing therapeutic development in SCN2A and SCN8A -related disorders: A multi-stakeholder, patient-centric roadmapping and strategy workshop Christina SanInocencio, Raquel Miralles, Gabrielle Conecker et al. · Journal of Clinical and Translational Science Open access	2026	0
14	Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification Tobias Brünger et al. · medRxiv PreprintOpen access	6 Mar 2026	0

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.