Figures and data in Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy
Figures and data in Stxbp1/Munc18-1 haploinsufficiency impairs inhibi…
Feb 19, 2020
elifesciences.org
5.9K views · 366 reactions | Eliza, who is 3 next week, has a rare...
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What is the STXBP1 syndrome?
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What is the STXBP1 syndrome?
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If you’ve never heard of STXBP1… this is your sign to learn 🧬 STXBP1 is a rare genetic neurological disorder that affects how the brain communicates with the body. It often impacts movement, development, and can cause seizures. For kids like Mila, nothing comes automatically. Every movement takes effort. Every milestone takes time, repetition, and a lot of therapy. But STXBP1 doesn’t define who she is. She feels joy. She recognizes love. She tries every single day. This is about awareness. This
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¿Qué es el síndrome STXBP1?
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Will she ever walk? ❤️‍🩹 Mila has a rare neurological disorder called STXBP1, which affects how her brain communicates with her body. Walking doesn’t come naturally to her — every step has to be taught through therapy, repetition, and patience. There are no guarantees. But there is effort. And there is hope. A new year means new hope, new goals, and new chances to grow. Thank you for being part of Mila’s journey — for the love, encouragement, and kindness you show her every day. Let’s see what
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Will she ever walk? ❤️‍🩹 Mila has a rare neurological disorder called S…
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What is SETBP1? - SETBP1 Society
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setbp1.org
What is STXBP1? — STXBP1 Foundation
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