Pediatric Epilepsy Advanced Technologies Clinic (PEATC)
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Nov 4, 2022 - Pediatric Epilepsy Conference
- Save the date for the 2022 Pediatric Epilepsy Conference presented by Washington University School of Medicine and St. Louis Children's Hospital
- Free registration (more info coming soon)
- In-person and virtual options
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Genetics in epilepsy can improve patient care
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The role of genetics in epilepsy is rapidly expanding. Over 800 genes have been identified as causes of epilepsy and that number continues to grow.
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In a growing number of cases, understanding genetic causes can result in:
- more targeted treatments for a child's epilepsy
- important guidance for family planning
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Genetic testing can identify the cause of epilepsy in up to 50% of cases of drug-resistant epilepsy with a previously unknown cause.
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Through PEATC our pediatric neurologists, geneticists and genetic counselors work together to determine appropriate genetic testing and/or review prior outside testing.
We use this information to determine if we can gain a greater understanding of the underlying cause of the epilepsy to target treatment more specific to the individual.
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Clinically available tests include:
- Chromosomal microarray
- Gene Panels
- Whole Exome Sequencing
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An eye to the future...
Genetic testing is increasingly helpful in determining how an individual may metabolize antiseizure medications (pharamacogenetics) and will ultimately help with determining other modifiers of epilepsy, such as susceptibility genes for status epilepticus.
Future directions, including Whole Genome Sequencing, will result in a still higher yield of diagnostic testing.
Gene therapy is on the horizon for conditions such as Dravet syndrome, Rett syndrome and CDKL5 deficiency disorder.
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Meet the provider - Judy Weisenberg, MD
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Dr. Weisenberg is an Associate Professor of Neurology and board-certified Epileptologist at the Washington University School of Medicine in St. Louis, MO.
She is the co-director of the Rett Spectrum Clinic at Washington University and St. Louis Children’s Hospital. She is also leading efforts to advance neurogenetics within the Pediatric Neurology Division.
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Dr. Weisenberg, born in Pensacola, FL, and raised in Minneapolis, MN, received her undergraduate degree in Biology from Barnard College in New York City and her medical degree from the University of Minnesota. She completed a Pediatric Residency at the University of Minnesota and a Child Neurology Residency and Neurophysiology Fellowship at Washington University School of Medicine in St. Louis. She joined the faculty in 2009.
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Her clinical interests include the entire spectrum of pediatric epilepsy, with a particular focus on drug-resistant and genetic epilepsies.
Her academic interests involve the genetics of epilepsy and Rett spectrum disorders, with a particular focus on CDKL5 deficiency disorder.
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Dr. Weisenberg particularly enjoys working with PEATC patients as it gives her an opportunity to use all modalities of treatment to improve epilepsy care.
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When not at work or spending time with her family, she enjoys reading fiction.
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- Mohammed HS, Kaufman CB, Limbrick DD, Steger-May K, Grubb RL Jr, Rothman SM, Weisenberg JL, Munro R, Smyth MD. Impact of epilepsy surgery on seizure control and quality of life: A 26-year follow-up study. Epilepsia. 2012; 53:712-720. PMID: 22313356
- Ostendorf AP, Gutmann DH, Weisenberg JL. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia 2013; 54: 1810-1814. PMID: 24032542
- Coorg R, Weisenberg JL. Successful treatment of electrographic status epilepticus of sleep with felbamate in a patient with SLC9A6 mutation. Pediatric Neurology 2015; 53: 527-531. PMID:26421989
- Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Severity Assessment in CDKL5 Deficiency Disorder. Pediatric Neurology 2019; 97: 38-42. PMID 31147226.
- Weisenberg JLZ, Fitzgerald RT, Constantino JN, Winawer MR, Thio LL; EPGP Investigators. Familial aggregation of status epilepticus in generalized and focal epilepsies. Neurology. 2020 Oct 13;95(15):e2140-e2149. Epub 2020 Sep 11. PMID: 32917807
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The Pediatric Epilepsy Advanced Technologies Clinic (PEATC) is a specialty concierge clinic at the Washington University NAEC-accredited Level 4 Pediatric Epilepsy Center at St. Louis Children’s Hospital.
PEATC offers the highest level of care for children and young adults with treatment-resistant epilepsy providing support and resources to improve quality of life and seizure management through reduction or elimination of seizures.
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Contact: Sara Graves, BSN, RN, Nurse Navigator
314-454-6120 (phone)
314-747-6262 (fax)
peatc@wustl.edu (email)
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