نتایج جستجو برای: hemimegalencephaly
تعداد نتایج: 239 فیلتر نتایج به سال:
1. Ku CS, Polychronakos C, Tan EK et al. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease 2012, http://dx.doi.org/10.1038/mp.2012.58. 2. Lee JH, Huynh M, Silhavy JL et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012: 44 (8): 941–945. 3. Sheppard K, Kinross KM, Solomon B Pear...
In a child with left hemimegalencephaly and seizures, a reversible operculum syndrome developed when continuous epileptic discharges spread from the left hemisphere to the contralateral central regions. The operculum syndrome lasted for three months until left hemispherectomy was performed. Soon after surgery the seizures and the operculum syndrome resolved. The operculum syndrome is a facio-ph...
Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 pati...
Shunt overdrainage represents a nebulous condition of variable clinical and imaging presentations, where the diagnosis is primarily clinical. The condition presents a diagnostic challenge particularly in patients with cognitive impairment and developmental delays. Here we present a 3-year-old boy with drug-resistant focal onset seizures due to hemimegalencephaly who previously underwent functio...
Hemimegalencephaly (HME) is a rare disorder of cortical development with overgrowth of one cerebral hemisphere. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug-resistant epilepsy is often treated with a hemispherectomy. We review the literature on HME natural history and report a 26-year-old man with HME who did not undergo hemispherectomy in childhood with recurrent foc...
A 16-year-old woman with hypomelanosis of Ito (HI) was scheduled for surgical correction of a left wrist contracture and left cavus foot deformity under general anesthesia. She had left hemiplegia and right hemianopia, but otherwise normal cerebral function. At the age of 8 months she had undergone right functional hemispherectomy for medically intractable epilepsy caused by right hemimegalence...
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP related to somatic mosaic mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (<i>PIK3CA</i>) gene. We report...
ohtahara syndrome or ealy infantile epileptic encephalopathy is a rare cause of epileptic seizures during infancy and represents the earliest type of age related symptomatic generalized epilepsies. the main etiologic factor associated with ohtahara syndrome is cerebran dysgenesis. this case was the product of in vitro fertilization (ivf) after 18 years of infertility . neuroimaging findings con...
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