A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.

Mitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.

Magnetic fields produced by steady currents in the body.

The magnetic fields produced by naturally occurring steady currents in the body were measured by using a new magnetic gradiometer in a magnetically shielded room. A field of 0.1 micro G/cm with reproducible pattern was seen over the head and over the limbs, whereas the field over the torso proper was weaker (except over the abdomen). Most of the field over the head is produced by electrical sources associated with the hair follicles of the scalp; this field is produced only as a response to touching or pressing the scalp, in regions where the hair is dense. Most of the field over the limbs is produced by electrical sources associated with the muscles. The field over the forearm, studied in detail, was often present spontaneously; when absent, it could be induced by mild twisting and rubbing. On the basis of auxiliary experiments involving electrolytes, a general mechanism for generation of steady current in the body is suggested. In this mechanism, the steady current is generated by a nonclosed or a nonuniform polarized layer across an elongated semipermeable membrane such as a muscle fiber; the nonuniform polarization is due to a gradient of extracellular K+ along the membrane.