Marlene Rong

Anti-NMDA Receptor Encephalitis in a Patient with 18p Deletion Syndrome

Marlene Rong, Jennifer A. McCombe

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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 …

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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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Adult Phenotype of CHD2 -Associated Disorders

Marlene Rong, Quratulain Zulfiqar Ali, Ángel Aledo‐Serrano, Allan Bayat et autres

Background and Objectives: variants. Methods: variants were included. We used standardized tools to evaluate current seizures, medication use, sleep, gastrointestinal symptoms, pain response, gait, social communication disorder, and adaptive behavioral skills of patients. Results: = 0.04). Discussion: variants.

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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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Adult Phenotype of SYNGAP1 -DEE

Marlene Rong, Tim A. Benke, Quratulain Zulfiqar Ali, Ángel Aledo‐Serrano et autres

Background and Objectives SYNGAP1 variants are associated with rare developmental and epileptic encephalopathies (DEEs). Although SYNGAP1-related childhood phenotypes are well characterized, the adult phenotype remains ill-defined. We sought to investigate phenotypes and outcomes in adults with SYNGAP1 variants and epilepsy. Methods Patients …

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Adult Outcomes of Pediatric-onset CHD2 and SYNGAP1-associated Developmental and Epileptic Encephalopathies

Marlene Rong

Developmental and epileptic encephalopathies (DEEs) are rare, infantile-onset conditions of genetic etiology, particularly CHD2 and SYNGAP1 variants. While pediatric phenotypes are well described, there is a lack of understanding regarding adult outcomes, which may lead to misdiagnoses and barriers to treatment. This …

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A systematic review of adults with Dravet syndrome

Arunan Selvarajah, Quratulain Zulfiqar Ali, Paula Marques, Marlene Rong et autres

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