"Although most cases are sporadic, some cases are X-linked dominant due to FLNA gene mutations 4. Affected females have relatively mild cognitive deficits and tend to develop epilepsy later. Many affected males are spontaneously aborted, presumably due to cardiovascular defects. Those who survive have a more profound disability 3. Other less common forms are inherited in an autosomal recessive manner due to ARFGEF2 gene mutation 5."
"usually other stigmata of TS are present"
"Although most cases are sporadic, some cases are X-linked dominant due to FLNA gene mutations 4. Affected females have relatively mild cognitive deficits and tend to develop epilepsy later. Many affected males are spontaneously aborted, presumably due to cardiovascular defects. Those who survive have a more profound disability 3. Other less common forms are inherited in an autosomal recessive manner due to ARFGEF2 gene mutation 5."
Expected headings
"Antenatal MRI"
"Postnatal MRI"
"Although faintly visible on CT, they are rarely seen on ultrasound (only if very large); MRI is the modality of choice in assessing patients with subependymal heterotopia."