When sleep-related hypermotor epilepsy (SHE) met Charles Darwin and Francis Galton.

Sleep-related hypermotor epilepsy (SHE) is characterized by short-lasting seizures patterned by repetitive and stereotyped motor events in the same person. In autosomal dominant SHE, genetic factors play a well-known key role. In The Expression of Emotions in Man and Animals, Charles Darwin quotes a plausible example of SHE illustrated by his cousin Sir Francis Galton: "the gentleman…lay fast asleep on his back in bed, raising his right arm slowly in front of his face, up to his forehead, and then dropping it with a jerk, so that the wrist fell heavily on the bridge of his nose. The trick did not occur every night, but occasionally, and was independent of any ascertained cause. Sometimes it was repeated incessantly for an hour or more." Similar manifestations during sleep occurred also in the patient's son and granddaughter, suggesting an autosomal inheritance without sex relationship. Differential diagnosis with REM behavior disorder and other parasomnias is discussed. To our knowledge, this could be the first description of a stereotyped SHE pattern with genetic transmission.

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.

Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

We have identified a novel heteroplasmic C6489A missense mutation in the mitochondrial DNA (mtDNA) CO I gene encoding the cytochrome c oxidase (COX) subunit I in a 17-year-old girl with epilepsia partialis continua. This point mutation leads to an exchange of the highly conserved Leu196 to Ileu196. Muscle biopsy showed in single fibers decreased COX activity and lowered binding of COX antibodies, indicating decreased stability of the mutated enzyme. The analysis of blood mtDNA revealed about 30% mutant mtDNA in the patients blood but about 90% mutant mtDNA in the blood of two non-affected family members. Quantitative analysis of the mutation gene dose effect on COX activity on single muscle fiber level revealed a very high threshold-a COX deficiency was observed only in fibers containing >95% mutant mtDNA. In apparent contrast to this high mutation gene dose threshold, in vivo investigations of mitochondrial function in saponin-permeabilized muscle fibers of the index patient containing approximately 90% mutated mtDNA showed decreased maximal rates of respiration and an increased sensitivity of fiber respiration to cyanide. This is due to a 2-fold increase of COX flux control on muscle fiber respiration and a 30% decrease of COX metabolic threshold, supporting the concept of tight COX control of oxidative phosphorylation in skeletal muscle.

Benign partial epilepsies in infancy.

Benign partial epilepsies are not rare in infancy and comprise two forms, although both are closely related. One is partial epilepsy with complex partial seizures (CPS) and the other one with secondarily generalized seizures (SGS). The most frequent site of seizure origin was in the temporal area in the former and central, parietal or occipital area in the latter. The former has not been well recognized because of subtle seizure manifestations and a favorable outcome. Its unique characteristics should be emphasized because it may be difficult to diagnose it unless we know its presence. Benign convulsions are also common in infancy. Most of them may belong to partial epilepsy with SGS, although confirmation with ictal EEG recording is necessary for accurate diagnosis. Some are familial and many of them seem to show an autosomal dominant pattern, but some seem to have autosomal recessive inheritance.