Neurology
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Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR). Despite both sister pairs having a PCDH19 mutation, neither parent in each family was a heterozygous carrier of the mutation. The possibility of parental mosaicism of PCDH19 mutations was investigated. ⋯ We show that gonadal mosaicism of a PCDH19 mutation in a parent is an important molecular mechanism associated with the inheritance of EFMR. This should be considered when providing genetic counseling for couples who have one affected daughter as they may risk recurrence of affected daughters and having sons at risk of transmitting EFMR.
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Randomized Controlled Trial Comparative Study Controlled Clinical Trial
Methylphenidate for gait impairment in Parkinson disease: a randomized clinical trial.
There is a paucity of therapies for gait impairment in Parkinson disease (PD). Open-label studies have suggested improved gait after treatment with methylphenidate (MPD). ⋯ NCT00526630.
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To explore the onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (JNCL). ⋯ Progressive cardiac involvement with repolarization disturbances, ventricular hypertrophy, and sinus node dysfunction occur in JNCL. We recommend that the attention on heart involvement in JNCL and other neuronal ceroid lipofuscinosis subtypes should be intensified.
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Voltage-gated potassium channel antibodies (VGKC Ab) are associated with limbic encephalitis and neuromyotonia in adults. There have been no systematic investigations in children to date. ⋯ Encephalitis associated with VGKC Ab occurs in children and presents with status epilepticus and focal epilepsy. These antibodies are not directed against Lgi1 or Caspr2.
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The aim of this study was to evaluate the efficacies and compare the outcomes of targeted and blind epidural blood patch (EBP) treatments of spontaneous intracranial hypotension (SIH). ⋯ EBPs targeting CSF leaks can be safely placed under fluoroscopic guidance in patients with SIH and are more likely to be effective than blindly placed EBPs.