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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. [electronic resource] by
- Thomas, Rhys H
- Zhang, Lin Mei
- Carvill, Gemma L
- Archer, John S
- Heavin, Sinéad B
- Mandelstam, Simone A
- Craiu, Dana
- Berkovic, Samuel F
- Gill, Deepak S
- Mefford, Heather C
- Scheffer, Ingrid E
Producer: 20150615
In:
Neurology vol. 84
Availability: No items available.
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10.
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Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. [electronic resource] by
- Pederick, Daniel T
- Richards, Kay L
- Piltz, Sandra G
- Kumar, Raman
- Mincheva-Tasheva, Stefka
- Mandelstam, Simone A
- Dale, Russell C
- Scheffer, Ingrid E
- Gecz, Jozef
- Petrou, Steven
- Hughes, James N
- Thomas, Paul Q
Producer: 20190705
In:
Neuron vol. 97
Availability: No items available.
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11.
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The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia. [electronic resource] by
- Harvey, A Simon
- Mandelstam, Simone A
- Maixner, Wirginia J
- Leventer, Richard J
- Semmelroch, Mira
- MacGregor, Duncan
- Kalnins, Renate M
- Perchyonok, Yuliya
- Fitt, Gregory J
- Barton, Sarah
- Kean, Michael J
- Fabinyi, Gavin C A
- Jackson, Graeme D
Producer: 20150721
In:
Neurology vol. 84
Availability: No items available.
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12.
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Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. [electronic resource] by
- Lee, Wei Shern
- Stephenson, Sarah E M
- Howell, Katherine B
- Pope, Kate
- Gillies, Greta
- Wray, Alison
- Maixner, Wirginia
- Mandelstam, Simone A
- Berkovic, Samuel F
- Scheffer, Ingrid E
- MacGregor, Duncan
- Harvey, Anthony Simon
- Lockhart, Paul J
- Leventer, Richard J
Producer: 20200513
In:
Annals of clinical and translational neurology vol. 6
Availability: No items available.
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13.
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Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. [electronic resource] by
- Leventer, Richard J
- Jansen, Floor E
- Mandelstam, Simone A
- Ho, Alice
- Mohamed, Ismail
- Sarnat, Harvey B
- Kato, Mitsuhiro
- Fukasawa, Tatsuya
- Saitsu, Hirotomo
- Matsumoto, Naomichi
- Itoh, Masayuki
- Kalnins, Renate M
- Chow, Chung W
- Harvey, A Simon
- Jackson, Graeme D
- Crino, Peter B
- Berkovic, Samuel F
- Scheffer, Ingrid E
Producer: 20140505
In:
Epilepsia vol. 55
Availability: No items available.
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14.
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Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. [electronic resource] by
- Scerri, Thomas
- Riseley, Jessica R
- Gillies, Greta
- Pope, Kate
- Burgess, Rosemary
- Mandelstam, Simone A
- Dibbens, Leanne
- Chow, Chung W
- Maixner, Wirginia
- Harvey, Anthony Simon
- Jackson, Graeme D
- Amor, David J
- Delatycki, Martin B
- Crino, Peter B
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Bahlo, Melanie
- Lockhart, Paul J
- Leventer, Richard J
Producer: 20150522
In:
Annals of clinical and translational neurology vol. 2
Availability: No items available.
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15.
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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. [electronic resource] by
- Sim, Joe C
- Scerri, Thomas
- Fanjul-Fernández, Miriam
- Riseley, Jessica R
- Gillies, Greta
- Pope, Kate
- van Roozendaal, Hanna
- Heng, Julian I
- Mandelstam, Simone A
- McGillivray, George
- MacGregor, Duncan
- Kannan, Lakshminarayanan
- Maixner, Wirginia
- Harvey, A Simon
- Amor, David J
- Delatycki, Martin B
- Crino, Peter B
- Bahlo, Melanie
- Lockhart, Paul J
- Leventer, Richard J
Producer: 20160617
In:
Annals of neurology vol. 79
Availability: No items available.
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16.
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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K [electronic resource] by
- Oliver, Karen L
- Franceschetti, Silvana
- Milligan, Carol J
- Muona, Mikko
- Mandelstam, Simone A
- Canafoglia, Laura
- Boguszewska-Chachulska, Anna M
- Korczyn, Amos D
- Bisulli, Francesca
- Di Bonaventura, Carlo
- Ragona, Francesca
- Michelucci, Roberto
- Ben-Zeev, Bruria
- Straussberg, Rachel
- Panzica, Ferruccio
- Massano, João
- Friedman, Daniel
- Crespel, Arielle
- Engelsen, Bernt A
- Andermann, Frederick
- Andermann, Eva
- Spodar, Krystyna
- Lasek-Bal, Anetta
- Riguzzi, Patrizia
- Pasini, Elena
- Tinuper, Paolo
- Licchetta, Laura
- Gardella, Elena
- Lindenau, Matthias
- Wulf, Annette
- Møller, Rikke S
- Benninger, Felix
- Afawi, Zaid
- Rubboli, Guido
- Reid, Christopher A
- Maljevic, Snezana
- Lerche, Holger
- Lehesjoki, Anna-Elina
- Petrou, Steven
- Berkovic, Samuel F
Producer: 20170719
In:
Annals of neurology vol. 81
Availability: No items available.
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. [electronic resource] by
- Marsh, Ashley P L
- Heron, Delphine
- Edwards, Timothy J
- Quartier, Angélique
- Galea, Charles
- Nava, Caroline
- Rastetter, Agnès
- Moutard, Marie-Laure
- Anderson, Vicki
- Bitoun, Pierre
- Bunt, Jens
- Faudet, Anne
- Garel, Catherine
- Gillies, Greta
- Gobius, Ilan
- Guegan, Justine
- Heide, Solveig
- Keren, Boris
- Lesne, Fabien
- Lukic, Vesna
- Mandelstam, Simone A
- McGillivray, George
- McIlroy, Alissandra
- Méneret, Aurélie
- Mignot, Cyril
- Morcom, Laura R
- Odent, Sylvie
- Paolino, Annalisa
- Pope, Kate
- Riant, Florence
- Robinson, Gail A
- Spencer-Smith, Megan
- Srour, Myriam
- Stephenson, Sarah E M
- Tankard, Rick
- Trouillard, Oriane
- Welniarz, Quentin
- Wood, Amanda
- Brice, Alexis
- Rouleau, Guy
- Attié-Bitach, Tania
- Delatycki, Martin B
- Mandel, Jean-Louis
- Amor, David J
- Roze, Emmanuel
- Piton, Amélie
- Bahlo, Melanie
- Billette de Villemeur, Thierry
- Sherr, Elliott H
- Leventer, Richard J
- Richards, Linda J
- Lockhart, Paul J
- Depienne, Christel
Producer: 20170905
In:
Nature genetics vol. 49
Availability: No items available.
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