Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
نویسندگان
چکیده
منابع مشابه
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, ...
متن کاملCongenital malformations: unexplored causes.
Delhi reports highest magnitude of risks for males and Chennai for females in all cancers combined during childhood period. Significant increase in trends of childhood cancer risk detected for all sites combined in Chennai for males and in Mumbai for females. The trends observed may likely to give an insight into further understanding of childhood cancer etiology. L Satyanarayana, Smita Asthana...
متن کاملGenetic causes of vascular malformations.
Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of se...
متن کاملReview: Teratogenic Causes of Malformations
Crucial morphogenetic processes during the blastogenesis period, which extends throughout the first 4 wk of development, from fertilization until the end of the gastrulation stage (days 27 to 28 postconception), can be altered and result in structural abnormalities, including patterns of multiple congenital anomalies (MCAs) arising from developmental field defects. Severe damage may cause death...
متن کاملRight-hemispheric brain activation correlates to language performance
Language function in the right-hemispheric homologues of Broca's and Wernicke's areas does not only correlate with left-handedness or pathology, but occurs naturally in right-handed healthy subjects as well. In the current study, two non-invasive methods of assessing language lateralization are correlated with behavioral results in order to link hemispheric dominance to language ability in heal...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neuron
سال: 2012
ISSN: 0896-6273
DOI: 10.1016/j.neuron.2012.03.010