STXBP1 genetic syndrome

STXBP1 is one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders. It is a rare disorder affecting the most important brain functions. The mutations of the gene may manifest as neonatal epilepsy, global delay, cognitive impairment, autism, movement disorders and Cerebral Palsy.

Read below the story of Davide, treated by the First-Step therapy.


Davide was born in 2013 in Switzerland: at 42 weeks of pregnancy, in caesarean delivery. Since his birth, he has suffered from epilepsy attacks. A few months after his birth, he has diagnosed with a mutation of the gene STXBP1: a rare disease influencing brain functions. He was also diagnosed with hypotonic tone.

When the family met the First-Step therapist Shai Silberbusch for a first assessment, Davide couldn’t sit, hold his head up and lay on his stomach without assistance. Supported by the AEMO Association, the family began a therapeutic process with First Step. One week of therapy in Italy and one in TelAviv. While therapy, the first focus was on major aspects of his development – sensory, motor, communication, balance and vestibular system. After this two-week intense therapy process, the family received a program of daily exercises. Davide will continue this process at home with his parents.

During their summer holiday in Italy – another 3-week therapy with a First-Step practitioner followed. The instructor guided the entire family in Southern Italy to implement the therapy.

Davide has made some important progress, he’s holding his head much better, and his balance has improved tremendously. A very good team of therapists, headed by Shai, welcomed us. They guided and supported us through the process. As a family, we’ve learned so much. Most important, Davide has made consistent improvements. We are also aware that the journey ahead is still long, and we need perseverance and patience” – Diego and Damiana, Davide’s parents.

More on First-Step Therapy for children with STXBP1 genetic syndrome

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