Company-reported prevalence

Relutrigine

Overview

Field	Value
Drug	Relutrigine (PRAX-562)
Indication	SCN2A- and SCN8A-related developmental and epileptic encephalopathies
Disease	SCN2A-DEE and SCN8A-DEE; developmental and epileptic encephalopathies (DEEs) as a group
Company	Praxis Precision Medicines (developer, worldwide rights; the report and the Form 10-K for 2025 name no licensing partner for relutrigine)
Documents searched	Praxis corporate website (home page, clinical trials page, expanded access page), read October 14, 2026; 134 press releases dated 2023 to 2026 listed on the investor website, read October 14, 2026; Form 10-K for 2025, filed February 19, 2026; Form 10-K for 2024, filed February 28, 2025; Form 10-K for 2023, filed March 5, 2024; Form 10-Q for the quarter ended March 31, 2026; corporate presentation, August 6, 2026; DEE portfolio update presentation, May 2, 2025; EMBOLD Phase 2 topline results presentation, September 3, 2024; R&D portfolio overview presentation, October 2, 2023
Data as of	October 14, 2026
Prepared by	AI research agent (Claude); not yet reviewed by a person

Company statements of prevalence

United States

Number affected (SCN2A gain-of-function epileptic encephalopathy): Praxis Precision Medicines Form 10-K for 2025, February 2026

“It is estimated that there are approximately 4,000 patients in the United States with gain-of-function changes in SCN2A leading to epileptic encephalopathy.” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Praxis Precision Medicines (2026) Form 10-K for 2025, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Number affected (SCN8A-DEE): Praxis Precision Medicines Form 10-K for 2025, February 2026

“It is estimated that there are approximately 5,000 patients in the United States with SCN8A-DEE.” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Number affected (SCN2A gain-of-function epileptic encephalopathy): Praxis Precision Medicines Form 10-K for 2024, February 2025

“It is estimated that there are approximately 2,000 patients in the United States with GoF changes in SCN2A leading to epileptic encephalopathy.” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Praxis Precision Medicines (2025) Form 10-K for 2024, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Number affected (SCN8A-DEE): Praxis Precision Medicines Form 10-K for 2024, February 2025

“It is estimated that there are approximately 2,000 patients in the United States with SCN8A-DEE.” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Prevalence (SCN2A-DEE and SCN8A-DEE combined): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

“Estimated prevalence of ~5,000 patients in the US” (opens the source at this quote in a new tab)

Cited source: 2.1 Invitae, undated; 2.2 Ambit, undated

Praxis Precision Medicines (2024) EMBOLD topline results presentation, September 2024, quoted passage highlighted — Captured from page 7 of 24 (opens in a new tab)

Eligible population (SCN2A and SCN8A patients addressable by relutrigine): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

“~5K SCN2/8A US patients” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Number diagnosed (SCN2A gain-of-function, patients aged 20 years or younger): Praxis Precision Medicines R&D portfolio overview presentation, October 2023

“U.S. Diagnosed Prevalence for Rare Epilepsy Programs” (opens the source at this quote in a new tab)
“(patients ≤20 years of age)” (opens the source at this quote in a new tab)
“2,300” (opens the source at this quote in a new tab)

Cited source: 2.1 Invitae, undated; 2.2 Ambit, undated; 2.3 EvaluatePharma, undated; 2.4 Sanders 2018; 2.5 Wolff 2017

Praxis Precision Medicines (2023) R&D portfolio overview presentation, October 2023, quoted passage highlighted — Captured from page 10 of 71 (opens in a new tab)

Number diagnosed (SCN8A gain-of-function, patients aged 20 years or younger): Praxis Precision Medicines R&D portfolio overview presentation, October 2023

“U.S. Diagnosed Prevalence for Rare Epilepsy Programs” (opens the source at this quote in a new tab)
“(patients ≤20 years of age)” (opens the source at this quote in a new tab)
“2,400” (opens the source at this quote in a new tab)

Cited source: 2.1 Invitae, undated; 2.2 Ambit, undated; 2.3 EvaluatePharma, undated; 2.4 Sanders 2018; 2.5 Wolff 2017

Number affected (all developmental and epileptic encephalopathies): Praxis Precision Medicines Form 10-K for 2025, February 2026

“We estimate there are approximately 200,000 patients in the United States living with a DEE.” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Number affected (all developmental and epileptic encephalopathies): Praxis Precision Medicines corporate presentation, August 2026

“Current US DEE market is over 200,000 patients and growing as population ages” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Praxis Precision Medicines (2026) corporate presentation, August 2026, quoted passage highlighted — Captured from page 19 of 30 (opens in a new tab)

Eligible population (broad developmental and epileptic encephalopathies, relutrigine target population): Praxis Precision Medicines press release, May 2025

“With a target population exceeding 200,000 patients in the US and precedent from other approved DEE therapies” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Praxis Precision Medicines (2025) press release, May 5, 2025, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Europe

No evidence found.

Global

No evidence found.

Other countries and regions

No evidence found.

Geography not stated

Eligible population (broad developmental and epileptic encephalopathies): Praxis Precision Medicines DEE portfolio update presentation, May 2025

“>200,000 ELIGIBLE PATIENTS” (opens the source at this quote in a new tab)

Cited source: None stated in the document.

Praxis Precision Medicines (2025) DEE portfolio update presentation, May 2025, quoted passage highlighted — Captured from page 15 of 55 (opens in a new tab)

Eligible population (developmental epilepsies with high seizure burden treated with sodium channel blockers): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

“>100k Developmental Epilepsies with high seizure burden using sodium channel blockers” (opens the source at this quote in a new tab)

Cited source: 2.6 Poke 2023

Incidence (all developmental and epileptic encephalopathies): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

“The incidence of DEE is expected to be 1/10,000 live births” (opens the source at this quote in a new tab)

Cited source: 2.7 Zuberi 2022; 2.8 Helbig 2018; 2.9 Takai 2020; 2.10 Gallop 2021; 2.11 Johannessen Landmark 2021; 2.12 Thurman 2014

Sources the company cites

Invitae, undated

Reference as the company lists it, EMBOLD topline results presentation, September 2024

“Source: Invitae Behind The Seizure Data” (opens the source at this quote in a new tab)

Reference as the company lists it, R&D portfolio overview presentation, October 2023

“Source: Invitae Behind The Seizure Data” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: Behind The Seizure is a sponsored genetic testing program; the presentations name no published report of its data and no document a reader can open.

Ambit, undated

Reference as the company lists it, EMBOLD topline results presentation, September 2024

“Ambit Genetic Testing and Claims Data Analysis” (opens the source at this quote in a new tab)

Reference as the company lists it, R&D portfolio overview presentation, October 2023

“Ambit Genetic Testing and Claims Data Analysis” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: The analysis of genetic testing and claims data is not published; the presentations name neither the data source nor a report.

EvaluatePharma, undated

Reference as the company lists it

“EvaluatePharma” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: EvaluatePharma is a subscription database a person must query; the presentation names no specific report.

Sanders 2018

Reference as the company lists it

“Sanders S. J. et al. Trends Neurosci. (2018)” (opens the source at this quote in a new tab)

Passage carrying the nearest figure

“probably represent only a fraction of SCN2A cases, as more than 400 are predicted to be born each year in the USA alone” (opens the source at this quote in a new tab)

Sanders 2018, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Wolff 2017

Reference as the company lists it

“Wolff M. et al Brain (2017)” (opens the source at this quote in a new tab)

Passage carrying the nearest figure

“We estimated the frequency of SCN2A mutations causing the reported phenotypes in the Danish population to be 1/78 608.” (opens the source at this quote in a new tab)

Wolff 2017, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Poke 2023

Reference as the company lists it

“Poke G, Stanley J, Scheffer IE, Sadleir LG. Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children” (opens the source at this quote in a new tab)

Passage carrying the nearest figure

“Epilepsy and developmental impairment before the age of 16 years occurs in 1 in 340 children, with 1 in 590 having a DEE and 1 in 800 having ID+E.” (opens the source at this quote in a new tab)

Poke 2023, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Zuberi 2022

Reference as the company lists it

“Zuberi SM, et al. Epilepsia. 2022;63(6):1349-1397” (opens the source at this quote in a new tab)

Passage carrying the nearest figure

“The incidence of EIDEE is estimated as 10/100 000 live births” (opens the source at this quote in a new tab)

Zuberi 2022, quoted passage highlighted — Captured from the passage on the page (opens in a new tab)

Helbig 2018

Reference as the company lists it

“Helbig KL, et al. Am J Hum Genet. 2018;103(5):666-678.” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: The article, read October 14, 2026, reports individuals with CACNA1E variants and states no incidence of DEE.

Takai 2020

Reference as the company lists it

“Takai A, et al. Int J Mol Sci. 2020;21(17):6442” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: The review, read October 14, 2026, states no incidence of DEE.

Gallop 2021

Reference as the company lists it

“Gallop K, et al. Epilepsy Behav. 2021;124:108324” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: The review, read October 14, 2026, gives a prevalence for individual syndromes in its Table 1 and states no incidence of DEE as a group.

Johannessen landmark 2021

Reference as the company lists it

“Johannessen Landmark C, et al. Epilepsia. 2021;62(4):857-873.” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: The review, read October 14, 2026, states no incidence of DEE.

Thurman 2014

Reference as the company lists it

“Thurman DJ, et al. Epilepsia. 2014;55(10):1479-1485” (opens the source at this quote in a new tab)

Passage carrying the figure

Not quoted: Closed access; the abstract reports the incidence of sudden unexpected death in epilepsy and states no incidence of DEE.

Overview

1Company statements of prevalence

Number affected (SCN2A gain-of-function epileptic encephalopathy): Praxis Precision Medicines Form 10-K for 2025, February 2026

Number affected (SCN8A-DEE): Praxis Precision Medicines Form 10-K for 2025, February 2026

Number affected (SCN2A gain-of-function epileptic encephalopathy): Praxis Precision Medicines Form 10-K for 2024, February 2025

Number affected (SCN8A-DEE): Praxis Precision Medicines Form 10-K for 2024, February 2025

Prevalence (SCN2A-DEE and SCN8A-DEE combined): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

Eligible population (SCN2A and SCN8A patients addressable by relutrigine): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

Number diagnosed (SCN2A gain-of-function, patients aged 20 years or younger): Praxis Precision Medicines R&D portfolio overview presentation, October 2023

Number diagnosed (SCN8A gain-of-function, patients aged 20 years or younger): Praxis Precision Medicines R&D portfolio overview presentation, October 2023

Number affected (all developmental and epileptic encephalopathies): Praxis Precision Medicines Form 10-K for 2025, February 2026

Number affected (all developmental and epileptic encephalopathies): Praxis Precision Medicines corporate presentation, August 2026

Eligible population (broad developmental and epileptic encephalopathies, relutrigine target population): Praxis Precision Medicines press release, May 2025

Eligible population (broad developmental and epileptic encephalopathies): Praxis Precision Medicines DEE portfolio update presentation, May 2025

Eligible population (developmental epilepsies with high seizure burden treated with sodium channel blockers): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

Incidence (all developmental and epileptic encephalopathies): Praxis Precision Medicines EMBOLD topline results presentation, September 2024

2Sources the company cites

Reference as the company lists it, EMBOLD topline results presentation, September 2024

Reference as the company lists it, R&D portfolio overview presentation, October 2023

Passage carrying the figure

Reference as the company lists it, EMBOLD topline results presentation, September 2024

Reference as the company lists it, R&D portfolio overview presentation, October 2023

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3References

Company statements of prevalence

Sources the company cites

References