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9 results on '"Millevert, Charissa"'

2. Abstract 15039: International Multicenter Registry Study of Patients With Variants in ATP1A3-Encoded Sodium-Potassium ATPase 3 Finds an Association With Short QT and Life-Threatening Ventricular Arrhythmias

Author

Moya-Mendez, Mary E, Bidzimou, Minu-Tshyeto, Ezekian, Jordan E, Perelli, Robin M, Parker, Lauren, Prange, Lyndsey, Kim, Jeffrey J, Howard, Taylor S, Reyes Valenzuela, Gabriel, Caraballo, Roberto, Garone, Giacomo, Vigevano, Federico, Weckhuysen, Sarah, Millevert, Charissa, Troncoso, Monica, Matamala, Mario, Balestrini, Simona, Sisodiya, Sanjay, Poole, Josephine, Zucca, Claudio, Panagiotakaki, Eleni, Tchaicha, Sébile, Sauquet, Julie, Zawadzka, Marta, Mazurkiewicz-Beldzinska, Maria, Fons, Carmen, Anticona, Jennifer, De Grandis, Elisa, Groppa, Sergiu, Paryjas, Sandra, Megvinov, Andrey, VAVASSORI, ROSARIA, and Landstrom, Andrew P

Published
2022
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4. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Author

Miceli, Francesco, primary, Millevert, Charissa, additional, Soldovieri, Maria Virginia, additional, Mosca, Ilaria, additional, Ambrosino, Paolo, additional, Carotenuto, Lidia, additional, Schrader, Dewi, additional, Lee, Hyun Kyung, additional, Riviello, James, additional, Hong, William, additional, Risen, Sarah, additional, Emrick, Lisa, additional, Amin, Hitha, additional, Ville, Dorothée, additional, Edery, Patrick, additional, de Bellescize, Julitta, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Goizet, Cyril, additional, Willemsen, Marjolein H., additional, Kleefstra, Tjitske, additional, Møller, Rikke S, additional, Bayat, Allan, additional, Devinsky, Orrin, additional, Sands, Tristan, additional, Korenke, G. Christoph, additional, Kluger, Gerhard, additional, Mefford, Heather C., additional, Brilstra, Eva, additional, Lesca, Gaetan, additional, Milh, Mathieu, additional, Cooper, Edward C., additional, Taglialatela, Maurizio, additional, and Weckhuysen, Sarah, additional

Published
2022
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5. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Author

Genetica Klinische Genetica, Brain, Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, Weckhuysen, Sarah, Genetica Klinische Genetica, Brain, Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, and Weckhuysen, Sarah

Published
2022

6. ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy

Author

Millevert, Charissa, Weckhuysen, Sarah, Perucca, Piero, Cross, J. Helen, Lerche, Holger, Esterhuizen, Alina I., Lopes‐Cendes, Iscia, Tsai, Meng‐Han, Berkovic, Samuel F., Lowenstein, Daniel H., Tan, Nigel C. K., Helbig, Ingo, Mefford, Heather C., Brunklaus, Andreas, and Lesca, Gaetan

Abstract

The self‐limited (familial) epilepsies with onset in neonates or infants, formerly called benign familial neonatal and/or infantile epilepsies, are autosomal dominant disorders characterized by neonatal‐ or infantile‐onset focal motor seizures and the absence of neurodevelopmental complications. Seizures tend to remit during infancy or early childhood and are therefore called “self‐limited”. A positive family history for epilepsy usually suggests the genetic etiology, but incomplete penetrance and de novo inheritance occur. Here, we review the phenotypic spectrum and the genetic architecture of self‐limited (familial) epilepsies with onset in neonates or infants. Using an illustrative case study, we describe important clues in recognition of these syndromes, diagnostic steps including genetic testing, management, and genetic counseling.

Published
2023
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8. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Author

Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen, Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, Jame, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, and Weckhuysen, Sarah

Subjects
Infant, Newborn, Disease, Developmental and epileptic encephalopathy, KCNQ2, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Amitriptyline, Autism, Infant, Newborn, Infant, Diseases, General Medicine, Newborn, Seizure, Infant, Newborn, Diseases, General Biochemistry, Genetics and Molecular Biology, Seizures, Gain of Function Mutation, Humans, KCNQ2 Potassium Channel, Gain-of-function, Language Development Disorders, Human medicine, Autistic Disorder, Human
Abstract

Contains fulltext : 284811.pdf (Publisher’s version ) (Open Access) BACKGROUND: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with KCNQ2 missense variants R144W, R144Q, and R144G. We also explored in vitro blockade of channels carrying R144Q mutant subunits by amitriptyline. METHODS: Patients were identified using the RIKEE database and through clinical collaborators. Phenotypes were collected by a standardized questionnaire. Functional and pharmacological properties of variant subunits were analyzed by whole-cell patch-clamp recordings. FINDINGS: Detailed clinical information on fifteen patients (14 novel and 1 previously published) was analyzed. All patients had developmental delay with prominent language impairment. R144Q patients were more severely affected than R144W patients. Infantile to childhood onset epilepsy occurred in 40%, while 67% of sleep-EEGs showed sleep-activated epileptiform activity. Ten patients (67%) showed autistic features. Activation gating of homomeric Kv7.2 R144W/Q/G channels was left-shifted, suggesting gain-of-function effects. Amitriptyline blocked channels containing Kv7.2 and Kv7.2 R144Q subunits. INTERPRETATION: Patients carrying KCNQ2 R144 gain-of-function variants have developmental delay with prominent language impairment, autistic features, often accompanied by infantile- to childhood-onset epilepsy and EEG sleep-activated epileptiform activity. The absence of neonatal seizures is a robust and important clinical differentiator between KCNQ2 gain-of-function and loss-of-function variants. The Kv7.2/7.3 channel blocker amitriptyline might represent a targeted treatment. FUNDING: Supported by FWO, GSKE, KCNQ2-Cure, Jack Pribaz Foundation, European Joint Programme on Rare Disease 2020, the Italian Ministry for University and Research, the Italian Ministry of Health, the European Commission, the University of Antwerp, NINDS, and Chalk Family Foundation.

Published
2022

9. Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Author

Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, and Landstrom AP

Abstract

Background: Alternating hemiplegia of childhood (AHC) is a rare disorder with both neurologic and cardiac manifestations. The ATP1A3-D801N variant is associated with a pathologically short QT interval and risk of ventricular arrhythmia following bradycardia; however, the mechanism of this remains unknown. We investigated the relationship between heart rate (HR), QT, and QTc, hypothesizing that individuals with ATP1A3-D801N have abnormal, impaired shortening of QT and QTc at lower HR leading to arrhythmia predisposition., Methods: We performed a retrospective observational study of individuals who underwent clinical evaluation, Holter monitoring, and genetic testing for AHC at Duke University Hospitals. We also compiled a group of healthy individuals as a control cohort. A larger, worldwide cohort of individuals with ATP1A3 -related phenotypes was compiled to investigate sinus node dysfunction. Linear regression analysis was then performed., Results: The cohort consisted of 44 individuals with ATP1A3 -related phenotypes with 81 Holter recordings (52.27% female; mean age at first Holter 8.04 years, range 0.58 - 33 years), compared to 36 healthy individuals with 57 Holter recordings (52.78% female; mean age at first Holter 9.84 years, range 0.08 - 38 years). Individuals with ATP1A3-D801N had reduced prolongation of QT at lower HR, manifest as a significantly lower slope for HR vs QT compared to healthy (P<0.0001). This resulted in a significantly higher slope of the relationship for HR vs QTc compared to healthy (P<0.0001). Individuals with ATP1A3 -related phenotypes and baseline QTc <350 milliseconds (ms) had increased shortening of QT and QTc at lower HR compared to those with normal QTc (P=0.003; P=0.001). Among worldwide cases, 3 out of 131 individuals with ATP1A3 -related phenotypes required device implantation and/or had sinus pauses >4 seconds., Conclusions: Individuals with the ATP1A3-D801N variant exhibit paradoxical shortening of QT and QTc at lower HR, which contributes to an increased risk of arrhythmias during bradycardia. This is exacerbated by an underlying risk of sinus node dysfunction., Clinical Perspective: What is Known:Individuals with ATP1A3-D801N have a short baseline QTc.Two individuals with AHC experienced ventricular fibrillation following bradycardia.What the Study Adds:The QT and QTc shorten to a greater extent at lower heart rate in individuals with ATP1A3-D801N than in healthy individuals. Individuals with ATP1A3 -related phenotypes and QTc <350ms show greater impairment of QT and QTc dynamics than those with normal QTc. There is low prevalence of device implantation and significant sinus pauses in individuals with ATP1A3 -related phenotypes, with a relatively greater prevalence in those with ATP1A3-D801N.

Published
2024
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