PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Phenotype | C0025958|microcephaly |
| Sentences | 5 |
| PubMedID- 21835305 | microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. |
| PubMedID- 22140031 | We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. |
| PubMedID- 22991235 | Wolcott-rallison syndrome (wrs) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (meds) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation. |
| PubMedID- 26307567 | Objectives: to identify the molecular basis of a neurological disease, which consists of global developmental stagnation at 3-8 months, increasing appendicular spasticity, truncal hypotonia and acquired microcephaly, with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination in eight patients from four unrelated ashkenazi-jewish (aj) families. |
| PubMedID- 24456803 | The supposed tumor suppressor gene wwox is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. |
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