Paula Marques

A global perspective on transitioning from pediatric to adult care in epilepsy

Danielle Molinari Andrade, Nathalie Jetté, Ilakkiah Chandran, Puja A. Patel et autres

OBJECTIVE: Transition planning in epilepsy is crucial to ensure continuity of care, particularly for adolescents with complex needs, yet global practices remain undefined. The International League Against Epilepsy Transition Task Force (ILAE TTF) aimed to evaluate worldwide practices, barriers, and provider perspectives …

ca, us, dk, gb, ro, my, Tanzanie, hk, it, Égypte, au, qa, br, co, fr (code pays fourni par la source)

Evidence demands action: An invitation to share the burden of proof

Danielle Molinari Andrade, Anne T. Berg, Arunan Selvarajah, Andrea Sabo et autres

We welcome critical engagement with our study, "Dravet Syndrome: From Neurodevelopmental to Neurodegenerative Disease?" 1 and appreciate the opportunity to clarify our findings, strengthen our interpretations, and reassert their clinical importance. 1 The critiques raised (Sisodiya et al., 2025) underscore the importance …

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The Current State of Care for Tuberous Sclerosis Complex in Canada

Robyn Whitney, Maryam Nabavi Nouri, Lauren Sham, Katherine E. Muir et autres

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Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy

Marlene Rong, Paula Marques, Quratulain Zulfiqar Ali, Ricardo Morcos et autres

OBJECTIVE: Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Diagnosis is clinical, but ~90% of patients have pathogenic variants in SCN1A. ATP6V0C has recently been proposed as a novel candidate gene for epilepsy, with or without developmental delay. Here we describe …

ca, es, dk, gb, au, us, fr, br (code pays fourni par la source)

Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

Arunan Selvarajah, Andrea Sabo, Carolina Gorodetsky, Paula Marques et autres

OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and …

ca, br, us, es, ie, fr (code pays fourni par la source)

Women With Genetic Epilepsies

Paula Marques, Nagham Kaka, Quratulain Zulfiqar Ali, Marlene Rong et autres

Some epilepsy syndromes are more common in female individuals. Often, these syndromes have an underlying genetic variant involving the X chromosome that is typically lethal in male individuals, resulting in a higher female prevalence. However, some of the idiopathic generalized epilepsies such …

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Genetic Epilepsies in Females

Paula Marques, Danielle Molinari Andrade

Some epilepsy syndromes are more common in females such as genetic generalized epilepsy (GGE) including juvenile myoclonic epilepsy (JME). JME is also more frequently transmitted to offspring by the women affected with epilepsy than by men. Other epilepsy syndromes limited to females …

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali et autres

us, il, ca, it, au, gb, tr, ag, fr, hk, de, lb, ps, ie, tw, fi, be, nz, lu, at (code pays fourni par la source)

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members

Alice Man, Matteo Di Scipio, Breanne Dale, Paula Marques et autres

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystemic disorder caused by inactivating variants in the mTOR pathway inhibitor genes TSC1 and TSC2. Individuals with TSC are predisposed to benign tumors in multiple organs as well as TSC-associated neuropsychiatric disorders (TAND) and epilepsy. …

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Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?

Paula Marques, Patrick B. Moloney, Caihong Ji, Quratulain Zulfiqar Ali et autres

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P.049 Acetazolamide use for myoclonus: case report of 2 patients with progressive myoclonic epilepsy and literature review

Paula Marques, Abdul Raafe Atif, Vital Lira, Quratulain Zulfiqar Ali et autres

Background: Cortical myoclonus originates at cerebral cortex, predominantly occurring on voluntary movements. Few case reports described usage of Acetazolamide (ACZ) for myoclonus. Methods: Chart review of 2 patients was performed. Literature review was conducted on myoclonus and ACZ using Pubmed. Results: 22-year-old …

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Transition in epilepsy – A pilot study with patients in and outside of academic centers

Quratulain Zulfiqar Ali, Paula Marques, Puja A. Patel, Jaime Carrizosa et autres

RATIONALE: Epilepsy is a complex condition and seizures are only one part of this disease. The move from pediatric to adult healthcare system proves difficult for many adolescents with epilepsy and their families. The challenges increase when patients have epilepsies associated with …

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