PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

MRF Reijnders, R Janowski, M Alvi, JE Self… - Journal of medical …, 2018 - jmg.bmj.com
Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …

Brain stimulation and brain lesions converge on common causal circuits in neuropsychiatric disease

SH Siddiqi, FL Schaper, A Horn, J Hsu… - Nature human …, 2021 - nature.com
Damage to specific brain circuits can cause specific neuropsychiatric symptoms.
Therapeutic stimulation to these same circuits may modulate these symptoms. To determine …

[HTML][HTML] Vascular inflammation in cerebral small vessel disease

RPW Rouhl, JGMC Damoiseaux, J Lodder… - Neurobiology of …, 2012 - Elsevier
Cerebral small vessel disease (CSVD) is considered to be caused by an increased
permeability of the blood-brain barrier and results in enlargement of Virchow Robin spaces …

[HTML][HTML] Treating rhythmic and periodic EEG patterns in comatose survivors of cardiac arrest

BJ Ruijter, HM Keijzer… - … England Journal of …, 2022 - Mass Medical Soc
Background Whether the treatment of rhythmic and periodic electroencephalographic (EEG)
patterns in comatose survivors of cardiac arrest improves outcomes is uncertain. Methods …

Evaluation of seizure treatment in anti-LGI1, anti-NMDAR, and anti-GABABR encephalitis

MAAM de Bruijn, A van Sonderen… - Neurology, 2019 - AAN Enterprises
Objective This nationwide cohort study evaluates seizure responses to immunotherapy and
antiepileptic drugs (AEDs) in patients with anti-leucine-rich glioma-inactivated 1 (LGI1), anti …

Ambulatory blood pressure in patients with lacunar stroke: association with total MRI burden of cerebral small vessel disease

P Klarenbeek, RJ van Oostenbrugge, RPW Rouhl… - Stroke, 2013 - Am Heart Assoc
Background and Purpose—Asymptomatic lacunar infarcts, white matter lesions, cerebral
microbleeds, and enlarged perivascular spaces are MRI markers of cerebral small vessel …

A comprehensive view on MRI techniques for imaging blood-brain barrier integrity

EP Elschot, WH Backes, AA Postma… - Investigative …, 2021 - journals.lww.com
The blood-brain barrier (BBB) is the interface between the blood and brain tissue, which
regulates the maintenance of homeostasis within the brain. Impaired BBB integrity is …

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

FM Snoeijen‐Schouwenaars, JS van Ool… - …, 2019 - Wiley Online Library
Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and
seizure control is often difficult. Identification of the underlying etiology in this patient group is …

Mapping lesion-related epilepsy to a human brain network

FL Schaper, J Nordberg, AL Cohen, C Lin, J Hsu… - JAMA …, 2023 - jamanetwork.com
Importance It remains unclear why lesions in some locations cause epilepsy while others do
not. Identifying the brain regions or networks associated with epilepsy by mapping these …

Endothelial progenitor cell research in stroke: a potential shift in pathophysiological and therapeutical concepts

RPW Rouhl, RJ van Oostenbrugge, J Damoiseaux… - Stroke, 2008 - Am Heart Assoc
Background and Purpose—Stroke is the leading cause of disability in the Western world;
however, few therapies are at hand to decrease this burden. Summary of Review …