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We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil +9 more
wiley +1 more source
Motor skills and working memory capacity in preadolescents born very preterm
Structural equation model showing the mediating effect of motor skills on the association of very preterm birth and working memory difficulties. Abstract Aim To investigate the association of very preterm birth with visuospatial working memory in preadolescents and its mediation via motor skills and a neural index of working memory capacity.
Sebastian Ludyga +3 more
wiley +1 more source
Abstract Objective Resective epilepsy surgery is an evidence‐based treatment option for patients with focal drug‐resistant epilepsy (DRE). Seizure outcome after surgery is largely dependent on detection and delineation of an epileptogenic lesion on magnetic resonance imaging (MRI). However, detection fails in 30% of patients at 3 Tesla (T) MRI, thereby
Rick H. G. J. van Lanen +56 more
wiley +1 more source
Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi +10 more
wiley +1 more source
Spike–fast activity interplay: A gateway to seizure
Abstract Objective The transition from interictal discharges to ictal high‐frequency activity (HFA) remains poorly understood. We investigated whether spike‐associated high‐frequency oscillations (Sp‐HFOs) during interictal and preictal periods contribute to the emergence of ictal HFA.
Thandar Aung +2 more
wiley +1 more source
The Neuropsychological and Neuroimaging Studies in Parietal Lobe Function
Tomohiko Asada
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Journal of Clinical Neurophysiology, 2012
There are few reports of patients with parietal lobe epilepsy. One of the largest series, from the Montreal Neurological Institute (MNI), reported that patients with epileptogenic areas in the parietal cortex behind the postcentral gyrus comprised 6% of patients with refractory focal epilepsy treated surgically at the MNI between 1929 and 1988.
openaire +4 more sources
There are few reports of patients with parietal lobe epilepsy. One of the largest series, from the Montreal Neurological Institute (MNI), reported that patients with epileptogenic areas in the parietal cortex behind the postcentral gyrus comprised 6% of patients with refractory focal epilepsy treated surgically at the MNI between 1929 and 1988.
openaire +4 more sources
2006
Abstract This chapter describes the isotope injection cases in the parietal lobe of six rhesus monkeys. It analyzes the resulting association, striatal, commissural, and subcortical fiber trajectories, as well as the cortical and subcortical terminations.
Jeremy D. Schmahmann, Deepak N. Pandya
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Abstract This chapter describes the isotope injection cases in the parietal lobe of six rhesus monkeys. It analyzes the resulting association, striatal, commissural, and subcortical fiber trajectories, as well as the cortical and subcortical terminations.
Jeremy D. Schmahmann, Deepak N. Pandya
openaire +1 more source

