Una forma de estímulo sensible epilepsia mioclónica hereda como un trastorno autosómico recesivo. La función de la presentación más común es una sola convulsión en la segunda década de la vida. Esto es seguido por mioclónica progresiva, convulsiones mioclónicas, convulsiones tónico-clónicas, convulsiones focales occipitales, deterioro intelectual y graves deficiencias motoras y de coordinación. Mayoría de los individuos afectados no viven más allá de la edad de 25 años. Amiloide concéntrico (Lafora) cuerpos se encuentran en las neuronas, el hígado, la piel, los huesos y los músculos (De Menkes, Libro de texto de Neurología de la niñez, 5 ed, pp111-110)
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