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Author/Creator Scheffer, Ingrid E

2. 009 Axonal excitability properties in dravet's syndrome reflect effect of loss of sodium channels. (29th July 2019)

Authors:
Farrar, Michelle A; Tomlinson, Susan E; Howells, James; Lin, Cindy Shin-YI; Carey, Kate; Park, Susanna B; Hollingsworth, Georgina; Lawson, John A; Kiernan, Matthew C; Berkovic, Sam F; Burke, David; Scheffer, Ingrid E
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 90(2019)e7
Page Start:
A4
Record Type:
Journal Article
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3. Evaluation of non‐coding variation in GLUT1 deficiency. (6th June 2016)

Authors:
Liu, Yu‐Chi; Lee, Jia Wei Audrey; Bellows, Susannah T; Damiano, John A; Mullen, Saul A; Berkovic, Samuel F; Bahlo, Melanie; Scheffer, Ingrid E; Hildebrand, Michael S
Other Names:
Ryan Monique M. investigator.; Leventer Richard J. investigator.; Freeman Jeremy L. investigator.; Mackay Mark T. investigator.; Hayman Michael investigator.; Rodriguez‐Casero Victoria investigator.; Subramanian Gopi investigator.; Webster Richard investigator.; Sadleir Lynette G. investigator.
Journal:
Developmental medicine & child neurology
Issue:
Volume 58:Number 12(2016:Dec.)
Page Start:
1295
Record Type:
Journal Article
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4. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Issue 3 (14th September 2009)

Authors:
Hynes, Kim; Tarpey, Patrick; Dibbens, Leanne M; Bayly, Marta A; Berkovic, Samuel F; Smith, Raffaella; Raisi, Zahyia Al; Turner, Samantha J; Brown, Natasha J; Desai, Tarishi D; Haan, Eric; Turner, Gillian; Christodoulou, John; Leonard, Helen; Gill, Deepak; Stratton, Michael R; Gecz, Jozef; Scheffe...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
211
Record Type:
Journal Article
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5. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. Issue 2 (8th July 2009)

Authors:
Heron, Sarah E; Scheffer, Ingrid E; Iona, Xenia; Zuberi, Sameer M; Birch, Rachael; McMahon, Jacinta M; Bruce, Carla M; Berkovic, Samuel F; Mulley, John C
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 2(2010)
Page Start:
137
Record Type:
Journal Article
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7. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. (23rd December 2019)

Authors:
Scheffer, Ingrid E; Boysen, Katja E; Schneider, Amy L; Myers, Candace T; Mehaffey, Michele G; Rochtus, Anne M; Yuen, Yuet‐Ping; Ronen, Gabriel M; Chak, Wai Km; Gill, Deepak; Poduri, Annapurna; Mefford, Heather C
Journal:
Developmental medicine & child neurology
Issue:
Volume 62:Number 9(2020)
Page Start:
1096
Record Type:
Journal Article
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8. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. (11th July 2021)

Authors:
Carvill, Gemma L; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G; Scheffer, Ingrid E; De Vries, Bert B A; Vissers, Lisenka E L M; Mefford, Heather C
Journal:
Developmental medicine & child neurology
Issue:
Volume 63:Number 12(2021)
Page Start:
1441
Record Type:
Journal Article
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10. Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Issue 14 (8th February 2022)

Authors:
Green, Timothy E; Motelow, Joshua E; Bennett, Mark F; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E; Major, Heather; Darbro, Benjamin W; Bahlo, Mela...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 14(2022)
Page Start:
2307
Record Type:
Journal Article
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