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Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. [electronic resource] by
- Olson, Heather E
- Tambunan, Dimira
- LaCoursiere, Christopher
- Goldenberg, Marti
- Pinsky, Rebecca
- Martin, Emilie
- Ho, Eugenia
- Khwaja, Omar
- Kaufmann, Walter E
- Poduri, Annapurna
Producer: 20160519
In:
American journal of medical genetics. Part A vol. 167A
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. [electronic resource] by
- Olson, Heather E
- Demarest, Scott T
- Pestana-Knight, Elia M
- Swanson, Lindsay C
- Iqbal, Sumaiya
- Lal, Dennis
- Leonard, Helen
- Cross, J Helen
- Devinsky, Orrin
- Benke, Tim A
Producer: 20200601
In:
Pediatric neurology vol. 97
Availability: No items available.
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Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. [electronic resource] by
- Sacharow, Stephanie J
- Dudenhausen, Elizabeth E
- Lomelino, Carrie L
- Rodan, Lance
- El Achkar, Christelle Moufawad
- Olson, Heather E
- Genetti, Casie A
- Agrawal, Pankaj B
- McKenna, Robert
- Kilberg, Michael S
Producer: 20190205
In:
Molecular genetics and metabolism vol. 123
Availability: No items available.
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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. [electronic resource] by
- Rochtus, Anne
- Olson, Heather E
- Smith, Lacey
- Keith, Louisa G
- El Achkar, Christelle
- Taylor, Alan
- Mahida, Sonal
- Park, Meredith
- Kelly, McKenna
- Shain, Catherine
- Rockowitz, Shira
- Rosen Sheidley, Beth
- Poduri, Annapurna
Producer: 20200710
In:
Epilepsia vol. 61
Availability: No items available.
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BRAT1 mutations present with a spectrum of clinical severity. [electronic resource] by
- Srivastava, Siddharth
- Olson, Heather E
- Cohen, Julie S
- Gubbels, Cynthia S
- Lincoln, Sharyn
- Davis, Brigette Tippin
- Shahmirzadi, Layla
- Gupta, Siddharth
- Picker, Jonathan
- Yu, Timothy W
- Miller, David T
- Soul, Janet S
- Poretti, Andrea
- Naidu, SakkuBai
Producer: 20171019
In:
American journal of medical genetics. Part A vol. 170
Availability: No items available.
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CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. [electronic resource] by
- Demarest, Scott T
- Olson, Heather E
- Moss, Angela
- Pestana-Knight, Elia
- Zhang, Xiaoming
- Parikh, Sumit
- Swanson, Lindsay C
- Riley, Katherine D
- Bazin, Grace A
- Angione, Katie
- Niestroj, Lisa-Marie
- Lal, Dennis
- Juarez-Colunga, Elizabeth
- Benke, Tim A
Producer: 20200415
In:
Epilepsia vol. 60
Availability: No items available.
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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. [electronic resource] by
- Howell, Katherine B
- McMahon, Jacinta M
- Carvill, Gemma L
- Tambunan, Dimira
- Mackay, Mark T
- Rodriguez-Casero, Victoria
- Webster, Richard
- Clark, Damian
- Freeman, Jeremy L
- Calvert, Sophie
- Olson, Heather E
- Mandelstam, Simone
- Poduri, Annapurna
- Mefford, Heather C
- Harvey, A Simon
- Scheffer, Ingrid E
Producer: 20151216
In:
Neurology vol. 85
Availability: No items available.
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Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. [electronic resource] by
- Olson, Heather E
- Kelly, McKenna
- LaCoursiere, Christopher M
- Pinsky, Rebecca
- Tambunan, Dimira
- Shain, Catherine
- Ramgopal, Sriram
- Takeoka, Masanori
- Libenson, Mark H
- Julich, Kristina
- Loddenkemper, Tobias
- Marsh, Eric D
- Segal, Devorah
- Koh, Susan
- Salman, Michael S
- Paciorkowski, Alex R
- Yang, Edward
- Bergin, Ann M
- Sheidley, Beth Rosen
- Poduri, Annapurna
Producer: 20170630
In:
Annals of neurology vol. 81
Availability: No items available.
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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. [electronic resource] by
- Gardner, Jennifer F
- Cushion, Thomas D
- Niotakis, Georgios
- Olson, Heather E
- Grant, P Ellen
- Scott, Richard H
- Stoodley, Neil
- Cohen, Julie S
- Naidu, Sakkubai
- Attie-Bitach, Tania
- Bonnières, Maryse
- Boutaud, Lucile
- Encha-Razavi, Férechté
- Palmer-Smith, Sheila M
- Mugalaasi, Hood
- Mullins, Jonathan G L
- Pilz, Daniela T
- Fry, Andrew E
Publication details: Brain sciences Aug 2018
In:
Brain sciences vol. 8
Availability: No items available.
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Severity Assessment in CDKL5 Deficiency Disorder. [electronic resource] by
- Demarest, Scott
- Pestana-Knight, Elia M
- Olson, Heather E
- Downs, Jenny
- Marsh, Eric D
- Kaufmann, Walter E
- Partridge, Carol-Anne
- Leonard, Helen
- Gwadry-Sridhar, Femida
- Frame, Katheryn Elibri
- Cross, J Helen
- Chin, Richard F M
- Parikh, Sumit
- Panzer, Axel
- Weisenberg, Judith
- Utley, Karen
- Jaksha, Amanda
- Amin, Sam
- Khwaja, Omar
- Devinsky, Orrin
- Neul, Jeffery L
- Percy, Alan K
- Benke, Tim A
Producer: 20200601
In:
Pediatric neurology vol. 97
Availability: No items available.
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A randomized controlled trial of levodopa in patients with Angelman syndrome. [electronic resource] by
- Tan, Wen-Hann
- Bird, Lynne M
- Sadhwani, Anjali
- Barbieri-Welge, Rene L
- Skinner, Steven A
- Horowitz, Lucia T
- Bacino, Carlos A
- Noll, Lisa M
- Fu, Cary
- Hundley, Rachel J
- Wink, Logan K
- Erickson, Craig A
- Barnes, Gregory N
- Slavotinek, Anne
- Jeremy, Rita
- Rotenberg, Alexander
- Kothare, Sanjeev V
- Olson, Heather E
- Poduri, Annapurna
- Nespeca, Mark P
- Chu, Hillary C
- Willen, Jennifer M
- Haas, Kevin F
- Weeber, Edwin J
- Rufo, Paul A
Producer: 20190520
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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