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Author/Creator Mefford, Heather C.

31. Genetic literacy series: Primer part 2—Paradigm shifts in epilepsy genetics. (9th May 2018)

Authors:
Helbig, Ingo; Heinzen, Erin L.; Mefford, Heather C.
Other Names:
Berkovic Samuel F. investigator.; Lowenstein Daniel H. investigator.; Kato Mitsuhiro investigator.; Cross J. Helen investigator.; Satishchandra P. investigator.; De Jonghe Peter investigator.; Jiang Yuwu investigator.; Goldman Alicia investigator.; Petrou Steve investigator.; Tan Nigel C. K. inve...
Journal:
Epilepsia
Issue:
Volume 59:issue 6(2018)
Page Start:
1138
Record Type:
Journal Article
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32. Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. (12th March 2020)

Authors:
Sadleir, Lynette G.; de Valles‐Ibáñez, Guillem; King, Chontelle; Coleman, Matthew; Mossman, Stuart; Paterson, Sarah; Nguyen, John; Berkovic, Samuel F.; Mullen, Saul; Bahlo, Melanie; Hildebrand, Michael S.; Mefford, Heather C.; Scheffer, Ingrid E.
Journal:
Epilepsia
Issue:
Volume 61:issue 4(2020)
Page Start:
e23
Record Type:
Journal Article
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34. Investigating the genetic basis of fever‐associated syndromic epilepsies using copy number variation analysis. (17th February 2015)

Authors:
Hartmann, Corinna; von Spiczak, Sarah; Suls, Arvid; Weckhuysen, Sarah; Buyse, Gunnar; Vilain, Catheline; Van Bogaert, Patrick; De Jonghe, Peter; Cook, Joseph; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Mefford, Heather C.
Journal:
Epilepsia
Issue:
Volume 56:issue 3(2015:Mar.)
Page Start:
e26
Record Type:
Journal Article
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36. Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype. Issue 1 (22nd December 2020)

Authors:
Rossetti, Linda Z.; Bekheirnia, Mir Reza; Lewis, Andrea M.; Mefford, Heather C.; Golden‐Grant, Katie; Tarczy‐Hornoch, Kristina; Briere, Lauren C.; Sweetser, David A.; Walker, Melissa A.; Kravets, Elijah; Stevenson, David A.; Bruenner, Georgette; Sebastian, Jessica; Knapo, Julia; Rosenfeld, Jill A...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 1(2021)
Page Start:
n/a
Record Type:
Journal Article
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37. Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. (23rd February 2016)

Authors:
Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Eks...
Journal:
Neurology
Issue:
Volume 86:Number 8(2016)
Page Start:
Record Type:
Journal Article
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38. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. (31st January 2017)

Authors:
Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nil...
Journal:
Neurology
Issue:
Volume 88:Number 5(2017)
Page Start:
483
Record Type:
Journal Article
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39. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. (31st January 2017)

Authors:
Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nil...
Journal:
Neurology
Issue:
Volume 88:Number 5(2017)
Page Start:
Record Type:
Journal Article
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40. Mutations in KCNT1 cause a spectrum of focal epilepsies. (30th June 2015)

Authors:
Møller, Rikke S.; Heron, Sarah E.; Larsen, Line H. G.; Lim, Chiao Xin; Ricos, Michael G.; Bayly, Marta A.; van Kempen, Marjan J. A.; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M.; Callen, David; McMahon, Jacinta M.; Yendle, Simone C.; Carvill, Gemma L.; Mefford, Heather C.; N...
Journal:
Epilepsia
Issue:
Volume 56:issue 9(2015:Sep.)
Page Start:
e114
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗