Symptoms usually occur in infancy but may begin in childhood or early adulthood. These may change over time.
Moderate to severe, which may be accompanied with behavioural problems such dysregulation and features of autism
(there may be more than one type)
Absence (staring spells, or petit mal)
Myoclonic (quick muscle jerks, outside of sleep)
Tonic-clonic (whole body stiffening with rhythmic jerks)
Infantile spasm (a few second contraction of the whole body)
Tremor (fine shaking)
Ataxia (difficulty with balance and coordinating movements, including walking)
Dystonia (abnormal posturing)
Bruxism (teeth grinding)
Hyptonia (loose muscle tone)
STXBP1 is involved with the release of neurotransmitters in neurons. Specifically it assists with the binding of vesicles (filled with neurotransmitters) to a neuron's cell membrane for release.
This dysfunction of neurotransmitter release can cause a wide range of symptoms and disorders.
Choice depends on the types of seizures, potential side effects and experience of the treating neurologist. Levetiracetam, or a related medication, may be a reasonable first choice as it works in the pathway where the functional problem is. Infantile spasms are treated differently from other seizure types. A “rescue” medication, usually a benzodiazepine, is often provided to use in case of a prolonged seizure. Rarely, drug-resistant seizures may be treated with neurosurgery.
Assessment and therapy are important to maximize the developmental potential. This may include: speech therapy, occupational therapy, and speech-language therapy. Psychology may be involved for behaviour and cognitive evaluation.
In addition to developing a good relationship with one’s family physician and paediatrician, one is often followed regularly by a neurologist (adult or paediatric). Other specialists who may consult include: geneticists, developmental paediatricians, psychiatrists, gastroenterologists, orthopaedic surgeons, and neurosurgeons. Most people will have had a MRI of their brain, which is best evaluated by a neuroradiologist.