Search Results - "Zak, Maria"

A prospective open‐label trial of a CBD/THC cannabis oil in dravet syndrome by McCoy, Bláthnaid, Wang, Laura, Zak, Maria, Al‐Mehmadi, Sameer, Kabir, Nadia, Alhadid, Kenda, McDonald, Kyla, Zhang, Grace, Sharma, Rohit, Whitney, Robyn, Sinopoli, Katia, Snead, O. Carter

“…Introduction Both Δ9 Tetrahydrocannabidiol (THC) and cannabidiol (CBD) components of cannabis, have been shown to have anticonvulsant effects. Cannabis oils…”
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The state of pediatric tuberous sclerosis complex epilepsy care: Results from a national survey by Whitney, Robyn, Zak, Maria, Haile, Denait, Nabavi Nouri, Maryam

“…Objective Epilepsy associated with tuberous sclerosis complex (TSC) can be challenging to treat and is associated with significant disease burden. Our…”
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Can Children With Hyperlipidemia Receive Ketogenic Diet for Medication-Resistant Epilepsy? by Liu, Yeou-Mei Christiana, Lowe, Helen, Zak, Maria M., Kobayashi, Jeff, Chan, Valerie W., Donner, Elizabeth J.

“…The very-high-fat ketogenic diet can worsen lipid levels in children with pre-existing hyperlipidemia by increasing serum lipoproteins and reducing…”
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The Utility of Surveillance Electroencephalography to Guide Early Antiepileptic Drug Therapy in Infants With Tuberous Sclerosis Complex by Whitney, Robyn, Jan, Saber, Zak, Maria, McCoy, Bláthnaid

“…Seizures are a common early presentation in infants with tuberous sclerosis complex (TSC) and can be preceded by electrographic changes on…”
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Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations by Nabavi Nouri, Maryam, Zak, Maria, Jain, Puneet, Whitney, Robyn

“…Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin…”
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A Review of Investigations for Patients With Tuberous Sclerosis Complex Who Were Referred to the Tuberous Sclerosis Clinic at The Hospital for Sick Children: Identifying Gaps in Surveillance by Alsowat, Daad, Zak, Maria, McCoy, Bláthnaid, Kabir, Nadia, Al-Mehmadi, Sameer, Chan, Valerie, Whitney, Robyn

“…As a newly established tuberous sclerosis clinic (TSC) clinic at The Hospital for Sick Children, we reviewed our referrals to determine if children with TSC…”
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KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases by Borlot, Felippe, Abushama, Ahmed, Morrison‐Levy, Nadine, Jain, Puneet, Puthenveettil Vinayan, Kollencheri, Abukhalid, Musaad, Aldhalaan, Hesham M., Almuzaini, Hanin S., Gulati, Sheffali, Hershkovitz, Tova, Konanki, Ramesh, Lingappa, Lokesh, Luat, Aimee F., Shafi, Shatha, Tabarki, Brahim, Thomas, Maya, Yoganathan, Sangeetha, Alfadhel, Majid, Arya, Ravindra, Donner, Elizabeth J., Ehaideb, Salleh N., Gowda, Vykuntaraju K., Jain, Vivek, Madaan, Priyanka, Myers, Kenneth A., Otsubo, Hiroshi, Panda, Prateek, Sahu, Jitendra K., Sampaio, Letícia P. B., Sharma, Suvasini, Simard‐Tremblay, Elisabeth, Zak, Maria, Whitney, Robyn

“…Objective Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1‐related epilepsy and explored…”
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The effect of mTOR inhibition on obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA) by Weidman, Danielle R., Palasamudram, Sunitha, Zak, Maria, Whitney, Robyn, McCoy, Blathnaid, Bouffet, Eric, Taylor, Michael, Shroff, Manohar, Bartels, Ute

“…Purpose Mammalian target of rapamycin inhibitors (mTORi) are known to effectively reduce the size of subependymal giant cell astrocytomas (SEGAs), which are…”
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Neuropsychological Outcome of Glucose Transporter-1 Deficiency Syndrome: a Case Study of Identical Twin Boys Without Intellectual Disability by Porthukaran, Alex, Zak, Maria, Moharir, Mahendra, Mamak, Eva, Sinopoli, Katia J.

“…Glucose transporter-1 deficiency syndrome (GLUT1 DS) is a rare metabolic disorder that affects glucose transport to the brain and often results in seizure…”
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STXBP1 is associated with bruxism in awake patients (P2.5-008) by Rezazadeh, Arezoo, Lira, Victor, Silberberg, Alexandra, Weiss, Shelly, Donner, Elizabeth, Zak, Maria, Bradbury, Laura, Uddin, Muhammed, Scherer, Stephen, Snead, O., Fasano, Alfonso, Andrade, Danielle

“…Abstract only…”
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Ketonuria and Seizure Control in the Medium Chain Triglyceride and Classic Ketogenic Diets by Lowe, Helen, Keller, Anne E, Tanzini, Elise, Aimola, Sabrina, Liu, Y M Christiana, Zak, Maria, Chan, Valerie, Kobayashi, Jeff, Donner, Elizabeth J

“…We hypothesized that children receiving medium-chain triglyceride ketogenic diet (MCTKD) experience similar seizure reduction despite lower ketosis compared…”
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Neutropenia in Children Treated With Ketogenic Diet Therapy by Munro, Kristen, Keller, Anne E., Lowe, Helen, Ferrara, Enza, Whitney, Robyn, Liu, Christiana Y. M., Zak, Maria, Chan, Valerie, Kobayashi, Jeff, Donner, Elizabeth J.

“…Objectives: The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. Methods: A…”
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STXBP1 is associated with bruxism in awake patients (P2.285) by Rezazadeh, Arezoo, Lira, Victor, Silberberg, Alexandra, Weiss, Shelley, Donner, Elizabeth, Zak, Maria, Bradbury, Laura, Uddin, Muhammed, Scherer, Stephen, Snead, O. Carter, Fasano, Alfonso, Andrade, Danielle

“…Abstract only…”
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STXBP1 encephalopathy is associated with awake bruxism by Rezazadeh, Arezoo, Uddin, Mohammed, Snead, O. Carter, Lira, Victor, Silberberg, Alexandra, Weiss, Shelly, Donner, Elizabeth J., Zak, Maria, Bradbury, Laura, Scherer, Stephen W., Fasano, Alfonso, Andrade, Danielle M.

“…Heterozygous mutations in syntaxin-binding protein 1 (STXBP1) gene are associated with early infantile epileptic encephalopathy 4 (EIEE4). This condition is…”
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Validation of actigraphy with continuous video-electroencephalography in children with epilepsy by Sadaka, Yair, Sadeh, Avi, Bradbury, Laura, Massicotte, Collin, Zak, Maria, Go, Cristina, Shorer, Zamir, Weiss, Shelly K

“…Highlights • This study validates actigraphy in children with refractory epilepsy. • Sleep and wake epochs were recorded simultaneously by actigraphy and…”
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The utility of surveillance EEG to guide early antiepileptic drug therapy in infants with Tuberous Sclerosis Complex by Whitney, Robyn, MD, Jan, Saber, MBBS, MPH, Zak, Maria, MN, NP, McCoy, Bláthnaid, MB BCh BAO

“…Abstract Background Seizures are a common early presentation in infants with Tuberous Sclerosis Complex (TSC) and can be preceded by electrographic changes on…”
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Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic by Hewson, Stacy, Brunga, Ledia, Ojeda, Matilde Fernandez, Imhof, Elizabeth, Patel, Jaina, Zak, Maria, Donner, Elizabeth J, Kobayashi, Jeff, Salomons, Gajja S, Mercimek-Andrews, Saadet

“…Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in…”
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The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort by Alsowat, Daad, Whitney, Robyn, Hewson, Stacy, Jain, Puneet, Chan, Valerie, Kabir, Nadia, Amburgey, Kimberly, Noone, Damien, Lemaire, Mathieu, McCoy, Blathnaid, Zak, Maria

“…Objective: We aimed to further elucidate the phenotypic spectrum of Tuberous Sclerosis Complex (TSC) depending on genotype. Methods: A retrospective review of…”
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Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome by Rodan, Lance H, Zak, Maria, Stavropoulos, James, Joseph-George, Ann M, Minassian, Berge A

“…A previously healthy 16-year-old girl of Jamaican descent presented with a 1-year history of progressive daytime somnolence, sleep attacks (sudden irresistible…”
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Clinical Efficacy of L-Annamycin, a Liposomal Formulated Non-Cross-Resistant and Non-Cardiotoxic Anthracycline in Relapsed/Refractory AML Patients by Gil, Lidia, Shepard, Robert C., Silberman, Sandra L, Zak, Ewa Maria, Priebe, Waldemar

“…Introduction: An anthracycline combined with cytarabine remains the backbone for induction therapy in the treatment of AML. De novo and acquired multidrug…”
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