About cdkl5 ireland
IS THIS GENETIC MUTATION HEREDITARY?
It appears that most of the mutations are “de novo,” meaning that they occur spontaneously and are not passed down through families. However, there are known families in which multiple siblings are affected with the exact mutation, but neither the mother nor father are confirmed carriers with the current genetic testing technology. However, these mothers are suspected to be germ-line carriers. It is not safe to assume that you are not a carrier based on DNA testing alone. It is best to consult a geneticist to discuss your risk for passing down this genetic mutation
HOW OFTEN DOES CDKL5 OCCUR?
Although rare, the occurrence estimates are currently ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy. Now, there are at least two children diagnosed with CDKL5 each week.
WHAT ARE THE SIGNS AND SYMPTOMS OF A CDKL5 DEFICIENCY?
Not everyone will have all the signs/symptoms listed here, and some may have
other symptoms not mentioned.
Epileptic seizures starting early in life
Epileptic spasms often occurring without hypsarrhythmia
Multiple different types of seizures
Limited ability to walk
Inability to speak but may use complex gestures/vocalization
Limited hand skills
Lack of eye contact (cortical visual impairment)
Purposeless hand movements (stereotypies)
Poor muscle tone (hypotonia)
Other SymptomsBreathing irregularities (such as hyperventilation)
Characteristics such as a sideways glance and habit of crossing legs
Behavioral symptoms such as anxiety and social avoidance
DO ALL CHILDREN WITH CDKL5 HAVE SEIZURES?
The majority of people diagnosed with CDKL5 do have seizures. However, some have never had a seizure. Most children affected by CDKL5 suffer from seizures that begin in the first hours, days, weeks, or months of life. Children diagnosed with CDKL5 disorder may have seizures starting within hours of birth, or as late as eight months to 2 years of age. Some mothers have described feeling seizures even in the prenatal period
CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy.