YWHAE gene

Parents often notice that a baby has unusually low muscle tone, is slow to reach developmental milestones such as sitting or crawling, and may have delayed speech or language skills. In some cases, a baby may also have seizures or a noticeably flat or smooth brain appearance on imaging, which can prompt further genetic testing. How is a YWHAE gene deletion confirmed, and what tests are involved?::A definitive diagnosis usually requires chromosomal microarray analysis or a targeted deletion test such as multiplex ligation-dependent probe amplification (MLPA). If a deletion is found, a follow‑up MRI of the brain can show the characteristic lissencephaly pattern associated with Miller‑Dieker syndrome. What treatment options exist for seizures in children with YWHAE mutations?::Seizure management is tailored to the individual and often involves antiepileptic drugs such as levetiracetam, valproate, or topiramate. In refractory cases, ketogenic diet or vagus nerve stimulation may be considered. A multidisciplinary team—including neurologists, developmental therapists, and dietitians—helps to optimize seizure control and overall development. What is the recurrence risk for parents who have had a child with a YWHAE deletion?::Most YWHAE deletions in Miller‑Dieker syndrome are de novo (new in the child), so the risk for future pregnancies is low (about 1–2%). However, if a parent carries a balanced translocation involving chromosome 17, the recurrence risk can be higher, and prenatal testing or pre‑implantation genetic diagnosis may be recommended.