Search Results - "Snoeijen‐Schouwenaars, Francesca"

Epilepsy in adults with neurodevelopmental disability ‐ what every neurologist should know by Watkins, Lance V., Linehan, Christine, Brandt, Christian, Snoeijen‐Schouwenaars, Francesca, McGowan, Paula, Shankar, Rohit

“…This seminar in epileptology addresses Learning Objective 6.1.4 of the International League against Epilepsy Curriculum: Demonstrate the ability to recognize…”
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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability by Snoeijen‐Schouwenaars, Francesca M., van Ool, Jans S., Verhoeven, Judith S., Mierlo, Petra, Braakman, Hilde M. H., Smeets, Eric E., Nicolai, Joost, Schoots, Jeroen, Teunissen, Mariel W. A., Rouhl, Rob P. W., Tan, In Y., Yntema, Helger G., Brunner, Han G., Pfundt, Rolph, Stegmann, Alexander P., Kamsteeg, Erik‐Jan, Schelhaas, Helenius J., Willemsen, Marjolein H.

“…Summary Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the…”
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Mood, anxiety, and perceived quality of life in adults with epilepsy and intellectual disability by Snoeijen‐Schouwenaars, Francesca M., van Ool, Jans S., Tan, In Y., Aldenkamp, Albert P., Schelhaas, Helenius J., Hendriksen, Jos G. M.

“…Objective Depression and anxiety symptoms are common among patients with epilepsy, but are relatively under‐researched in patients with both epilepsy and…”
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European perspective of perampanel response in people with Intellectual Disability by Allard, Jon, Henley, William, Snoeijen‐Schouwenaars, Francesca, Ool, Jans, Tan, In, Jurgen Schelhaas, H., Majoie, Marian H. J. M., Hudson, Sharon, McLean, Brendan, Shankar, Rohit

“…Background Epilepsy prevalence is over 20% for those with ID. It is difficult to diagnose and treat and more likely to be treatment resistant. The evidence…”
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People with epilepsy and intellectual disability: More than a sum of two conditions by Snoeijen-Schouwenaars, Francesca M., Young, Charlotte, Rowe, Charles, van Ool, Jans S., Schelhaas, Helenius J., Shankar, Rohit

“…•Epilepsy is significantly associated with people with intellectual disability (PwID).•People with intellectual disability with treatment-resistant epilepsy in…”
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Vitamin D Supplementation in Children With Epilepsy and Intellectual Disability by Snoeijen-Schouwenaars, Francesca M., MD, van Deursen, Kaily C, Tan, In Y., MD, Verschuure, Pauline, PhD, Majoie, Marian H., PhD

“…Abstract Background Children with epilepsy and intellectual disability have an increased risk of vitamin D deficiency. In this patient group, it is neither…”
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Letter: Recruitment of patients with both epilepsy and intellectual disability by Mierlo, Petra, Snoeijen‐Schouwenaars, Francesca M., Veendrick, Monique J. B. M., Tan, In Y., Willemsen, Marjolein H., Schelhaas, H. Jurgen, Kleine, Bert U.

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De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity by Li, Xia, Poschmann, Sibylle, Chen, Qiuyun, Fazeli, Walid, Oundjian, Nelly Jouayed, Snoeijen-Schouwenaars, Francesca M., Fricke, Oliver, Kamsteeg, Erik-Jan, Willemsen, Marjolein, Wang, Qing Kenneth

“…Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1…”
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Evaluation of perampanel in patients with intellectual disability and epilepsy by Snoeijen-Schouwenaars, Francesca M, van Ool, Jans S, Tan, In Y, Schelhaas, Helenius J, Majoie, Marian H.J.M

“…Abstract Introduction Initial registration studies of perampanel (PMP), an AMPA receptor antagonist, have now been followed up by ‘clinical’ studies that…”
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A systematic review of neuropsychiatric comorbidities in patients with both epilepsy and intellectual disability by van Ool, Jans S, Snoeijen-Schouwenaars, Francesca M, Schelhaas, Helenius J, Tan, In Y, Aldenkamp, Albert P, Hendriksen, Jos G.M

“…Abstract Epilepsy is a neurological condition that is particularly common in people with intellectual disability (ID). The care for people with both epilepsy…”
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Accuracy of WISC-III and WAIS-IV short forms in patients with neurological disorders by van Ool, Jans S., Hurks, Petra P.M., Snoeijen-Schouwenaars, Francesca M., Tan, In Y., Schelhaas, Helenius J., Klinkenberg, Sylvia, Aldenkamp, Albert P., Hendriksen, Jos G.M.

“…The assessment of intellectual abilities is intensive, time-consuming, and might be considered burdensome for patients. We examined psychometric qualities of…”
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Challenging behavior in adults with epilepsy and intellectual disability: An analysis of epilepsy characteristics by van Ool, Jans S., Snoeijen-Schouwenaars, Francesca M., Tan, In Y., Jurgen Schelhaas, H., Aldenkamp, Albert P., Hendriksen, Jos G.M.

“…The study aimed to describe the frequency and severity of self-injurious, stereotyped, and aggressive/destructive behavior in adults with both epilepsy and…”
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QUality of life and Economic evaluation after neuroSTimulation for Epilepsy (QUESTE) in adolescents and adults with drug-resistant epilepsy: protocol for a multicentre, prospective observational cohort study in The Netherlands by Smeets, Jacco J A S, Rijkers, Kim, Ackermans, Linda, Schijns, Olaf, van Mastrigt, Ghislaine A P G, Rouhl, Rob, Wagner, G Louis, van Kuijk, Sander, Nelissen, Jeske, van Straaten, Ilse E C W, Kho, Kuan, Snoeijen-Schouwenaars, Francesca, Meppelink, Anne-Marthe, Klinkenberg, Sylvia, Majoie, H J M

“…IntroductionEpilepsy is one of the most common chronic neurological disorders. Antiseizure medication (ASM) is the first choice of treatment, however, 30% of…”
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Psychogenic nonepileptic seizures in adults with epilepsy and intellectual disability: A neglected area by van Ool, Jans S., Haenen, Alexandra I., Snoeijen-Schouwenaars, Francesca M., Aldenkamp, Albert P., Hendriksen, Jos G.M., Schelhaas, H. Jurgen, Tan, In Y., Lazeron, Richard H.C., Bodde, Nynke M.G.

“…•Diagnostic challenges can form a barrier for reliable diagnosis of PNES in ID.•PNES may be underdiagnosed in a population of ID patients with epilepsy.•Women…”
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De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca 2+ sensitivity by Li, Xia, Poschmann, Sibylle, Chen, Qiuyun, Fazeli, Walid, Oundjian, Nelly Jouayed, Snoeijen-Schouwenaars, Francesca M, Fricke, Oliver, Kamsteeg, Erik-Jan, Willemsen, Marjolein, Wang, Qing Kenneth

“…Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1…”
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