نتایج جستجو برای: cdkl5
تعداد نتایج: 205 فیلتر نتایج به سال:
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). The netrin G1 protein (NTNG1) has an important role in the developing central nervous system, particularly in axonal guidance, signalling and NMDA receptor function and was a good candidate gene for RTT. We recruited 115 patients with RTT (females: ...
BACKGROUND The FOXG1 gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the fork-head box protein G1, a winged-helix transcriptional repressor with expression restricted to testis and brain, where it is critical for forebrain development. So far, only two point mutations in FOXG1 have been reported in females affected by the congenital form of RTT. Aim T...
clinical overview The early epileptic encephalopathies are a group of conditions that all manifest with three major diagnostic criteria: medically refractory seizures, diffuse encephalopathy and a poor developmental outcome. These syndromes include early infantile epileptic encephalopathy (EEIE, also known as Otahara’s syndrome), severe myoclonic epilepsy of infancy (Dravet’s syndrome), infanti...
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