Disclaimer, privacy and site policies

1 · Medical disclaimer

This website does not provide medical advice. It is an information and research platform about a gene and the disorders associated with it.

Nothing on this site is:

• a diagnosis, or a basis for one;
• a treatment recommendation, for any person;
• a dosing instruction, a protocol, or guidance on administering any substance — including substances available without prescription;
• a substitute for assessment and care by qualified physicians, clinical geneticists or other health professionals.

Much of the content on this site is explicitly hypothetical. The mechanistic hypotheses page sets out candidate disease mechanisms, several of which we record as having no gene-specific experimental support at all. Mechanistic plausibility is not clinical evidence. A chain of reasoning that sounds compelling is still reasoning, and reasoning has no place in a decision about a child's care unless a clinician who knows that child has weighed it.

If you are affected by an EEF1A2 variant, or are caring for someone who is: discuss your situation with your treating physicians and clinical genetics service. Do not start, stop or change any treatment, supplement or therapy on the basis of anything you read here.

Published clinical descriptions on this site report what has been observed in groups of people in the scientific literature. They are not predictions for any individual. The literature on this disorder was initially built from cohorts selected for severe epileptic encephalopathy, and the largest and most recent study found a substantially milder picture — which is itself a reason not to read published ranges as a forecast.

2 · Who operates this site

This is an independent, family-led initiative. It is not affiliated with, endorsed by, or acting on behalf of any university, hospital, research institution, patient organisation or company.

Provider identification (Impressum)

Required under German law (§ 5 DDG) for the operator of a website accessible in Germany:

If publishing a home address is a concern — a reasonable one for a family publishing about a child — a common solution is a service address through a professional provider. This is worth settling before launch rather than after.

3 · Privacy

The design principle here is data minimisation: the least possible amount of personal data, held for the shortest possible time, in the fewest possible places.

What this site does not do

• No tracking cookies. The site sets no cookies at all. There is consequently no cookie banner, because there is nothing to consent to.
• No third-party analytics. No Google Analytics, no tag managers, no pixels, no heatmaps.
• No third-party fonts, scripts or embeds. Every stylesheet, script and image is served from this domain, so loading a page does not disclose your IP address to any other company. This is deliberate: embedded Google Fonts alone have been held to be a data protection violation in German case law.
• No social media buttons and no advertising network.
• No contact form. This site does not collect messages and does not send email.
• No user accounts and no database of visitors.

Server logs

Your hosting provider will record standard web server access data — IP address, time, requested file, referrer, user agent — as a technical necessity. The legal basis is legitimate interest in operating and securing the service (Art. 6(1)(f) GDPR). We do not combine these logs with any other data, do not use them to profile visitors, and do not pass them to third parties except to the hosting provider acting as processor.

[TO BE COMPLETED — name the hosting provider, their country, and confirm a data processing agreement (Art. 28 GDPR) is in place. Also state the log retention period your provider uses.]

If you email us

• The address for enquiries is contact@eef1a2-initiative.com. Anything you send reaches our mailbox and is not stored on this website.
• We use your message and contact details only to reply to you. The legal basis is our legitimate interest in answering enquiries (Art. 6(1)(f) GDPR); where the enquiry concerns a potential collaboration, Art. 6(1)(b) GDPR may also apply.
• We delete correspondence we no longer need.
• Please do not send medical records, genetic reports or identifiable patient information by email. It is not a secure clinical channel. If clinical detail is relevant to a collaboration, we will arrange an appropriate route for it.

External links

This site links extensively to scientific sources — PubMed, PMC, publisher sites, UniProt, OMIM, the Protein Data Bank — and to a fundraising campaign hosted by GoFundMe. Following any such link takes you to a service we do not operate, under its own privacy policy. For the fundraising campaign specifically: all payment data is handled by GoFundMe, and we never see or receive it.

Your rights

Under the GDPR you have the right to access, rectification, erasure, restriction of processing, data portability and objection, and the right to withdraw consent at any time with effect for the future. You also have the right to lodge a complaint with a supervisory authority. To exercise any of these, contact the address in section 2.

4 · Our son's privacy

We publish the variant designation. We do not publish his clinical details: no medical records, no genetic reports, no imaging, no developmental assessments, no photographs.

The reasoning is on our story page, and it is simple: these are his, and he cannot consent. A website that may exist for decades should not contain a child's medical history decided on his behalf before he could speak.

We ask readers, journalists and researchers to respect this. If you contact us, please do not expect clinical detail in reply.

5 · Editorial policy for scientific content

These are the rules this site holds itself to. They are published so that failures to follow them are visible.

1. Every scientific claim must have an identifiable source. Priority goes to PubMed-indexed and peer-reviewed publications, ClinVar, UniProt, the Protein Data Bank and recognised clinical genetics databases.
2. Reading depth is disclosed. Each bibliography entry is tagged as full text read, abstract only, or database record only. A title copied from a secondary source is not a citation, and labelling it honestly prevents it from becoming one.
3. Unverified identifiers are marked. Where we have not resolved a DOI or PMID, the entry says so.
4. Nothing is fabricated. Not papers, not findings, not clinical evidence, not collaborations, not partnerships, not funding commitments, not donation totals, not therapeutic efficacy. Where a figure is not known it is left blank, and the page says it is blank.
5. Evidence class is labelled. Established mechanism, gene-specific published evidence, evidence from a related system, preliminary computational observation, and untested hypothesis are visually distinguished throughout.
6. A statement about EEF1A2 in general is not a statement about D91N, and a statement about one variant is not a statement about another. Preliminary computational observations are never presented alongside published findings as though they were equivalent.
7. Where evidence is insufficient, the answer is "insufficient evidence." Gaps are not filled with plausible biology, and a negative search result is published rather than omitted.
8. Our own hypotheses are labelled as ours and as unpublished.
9. Corrections are published, not quietly edited. When we get something wrong, the correction appears on the updates page with the same prominence as a finding.
10. Collaborators are named only with permission, and unpublished results are published only with the consent of whoever produced them.
11. Accuracy outranks fundraising. Where the two conflict, fundraising loses.

If you believe we have broken one of these rules — particularly if we have mischaracterised your published work — please tell us. We would rather be corrected than consistent.

6 · Copyright

Text and original diagrams on this site are the work of the site operators. Scientific figures from publications are not reproduced here; where a publication's figure is relevant, we describe the finding in our own words and link to the source. Database content referenced from UniProt, OMIM, ClinVar and the Protein Data Bank remains subject to the respective terms of those resources.

You are welcome to quote or link to this site. If you reuse the variant database or the bibliography, please note the reading-depth tags rather than stripping them — they are the part that makes the collection safe to use.

7 · Accessibility

The site is built to be keyboard navigable, to work with screen readers, to respect reduced-motion preferences, and to remain usable when text is enlarged. Diagrams carry text descriptions. If you hit a barrier, please report it to the operator named in section 2 — accessibility problems are treated as defects, not enhancements.

Last reviewed: [TO BE COMPLETED — date, and update it when you change this page]