Molecular genetics of epilepsy / by Robyn Wallace.

The genetic basis of human craniosynostosis syndromes / Georgina Hollway.

Hollway, Georgina

January 1998

Copies of author's previously published works inserted.Bibliography: leaves 195-222.x, 222, [46] lea...

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel, Carolien G F
Brilstra, Eva H
van Kempen, Marjan J A
Van't Slot, Ruben
Nijman, Isaac J
Afawi, Zaid
De Jonghe, Peter
Dj\ue9mi\ue9, Tania
Guerrini, Renzo
Hardies, Katia
Helbig, Ingo
Hendrickx, Rik
Kanaan, Moine
Kramer, Uri
Lehesjoki, Anna-Elina E
Lemke, Johannes R
Marini, Carla
Mei, Davide
M\uf8ller, Rikke S
Pendziwiat, Manuela
Stamberger, Hannah
Suls, Arvid
Weckhuysen, S
Balling, R
Barisic, N
Baulac, S
Caglayan, Hs
Craiu, Dc
Depienne, C
Gormley, P
Hjalgrim, H
Hoffman-Zacharska, D
J\ue4hn, J
Klein, Km
Komarek, V
LeGuern, E
Lerche, H
May, P
Muhle, H
Pal, D
Palotie, A
Rosenow, F
Selmer, K
Serratosa, Jm
Sisodiya, Sm
Stephani, U
Sterbova, K
Striano, P
Talvik, T
van Haelst, M
Verbeek, N
von Spiczak, S
Weber, Yg
Koeleman, Bpc.

January 2016

Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few poss...

Recent patents on epilepsy genetics

Napolioni V.

January 2009

The field of epilepsy genetics is contentious, particularly when it concerns the common epilepsies. ...

Positional cloning identifies a candidate gene for mental retardation and epilespsy / by Kavita Bhalla.

Bhalla, Kavita

January 2001

Includes errata attached to inside front cover and first leaf.Includes a list of publications co-aut...

Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))

Ghosh S. G.
Becker K.
Huang H.
Salazar T. D.
Chai G.
Salpietro V.
Al-Gazali L.
Waisfisz Q.
Wang H.
Vaux K. K.
Stanley V.
Manole A.
Akpulat U.
Weiss M. M.
Efthymiou S.
Hanna M. G.
Minetti C.
Striano P.
Pisciotta L.
De Grandis E.
Altmuller J.
Weixler L.
Nurnberg P.
Thiele H.
Yis U.
Okur T. D.
Polat A. I.
Amiri N.
Doosti M.
Karimani E. G.
Toosi M. B.
Haddad G.
Karakaya M.
Wirth B.
van Hagen J. M.
Wolf N. I.
Maroofian R.
Houlden H.
Cirak S.
Gleeson J. G.

January 2021

(The American Journal of Human Genetics 103, 431–439; September 6, 2018) Lisa Weixler has been added...

doi:10.1155/2012/876234 Review Article From Genetics to Genomics of Epilepsy

Silvio Garofalo
Marisa Cornacchione
Alfonso Di Costanzo

August 2016

Corrigendum to “Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC” [J. Eur. Paediatr. Neurol. 20 (2) (2016) 203–211 (S1090379815002160), (10.1016/j.ejpn.2015.12.005)]

Curatolo, Paolo
Aronica, Eleonora
Jansen, Anna
Jansen, Floor
Kotulska, Katarzyna
Lagae, Lieven
Moavero, Romina
Jozwiak, Sergiusz

January 2022

Text of the corrigendum: The authors regret that the printed version of the above article contained ...

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]

Myers, K.A.
White, S.M.
Mohammed, S.
Metcalfe, K.A.
Fry, A.E.
Wraige, E.
Vasudevan, P.C.
Balasubramanian, M.
Scheffer, I.E.

November 2018

The authors regret an error in our article “Childhood-onset generalized epilepsy in Bainbridge-Roper...

Molecular biology and genetics of epilepsy.

Willmore, L. James
Ueda, Yuto

April 2002

Genetic and molecular biological methodologies are being applied to the study of patients with epile...

Erratum : De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Appenzeller, Silke
Balling, Rudi
Barisic, Nina
Baulac, Stéphanie
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Depienne, Christel
Dimova, Petia
Djémié, Tania
Gormley, Padhraig
Guerrini, Renzo
Helbig, Ingo
Hjalgrim, Helle
Hoffman-Zacharska, Dorota
Jähn, Johanna A.
Klein, Karl Martin
Koeleman, Bobby
Komarek, Vladimir
Krause, Roland
Kuhlenbäumer, Gregor
Leguern, Eric
Lehesjoki, Anna-Elina
Lemke, Johannes R.
Lerche, Holger
Linnankivi, Tarja
Marini, Carla
May, Patrick
Møller, Rikke S.
Muhle, Hiltrud
Pal, Deb
Palotie, Aarno
Pendziwiat, Manuela
Robbiano, Angela
Roelens, Filip
Rosenow, Felix
Selmer, Kaja
Serratosa, Jose M.
Sisodiya, Sanjay M.
Stephani, Ulrich
Sterbova, Katalin
Striano, Pasquale
Suls, Arvid
Talvik, Tiina
von Spiczak, Sarah
Weber, Yvonne G.
Weckhuysen, Sarah
Zara, Federico
Abou-Khalil, Bassel
Alldredge, Brian K.
Andermann, Eva
Andermann, Frederick
Amrom, Dina
Bautista, Jocelyn F.
Berkovic, Samuel F.
Bluvstein, Judith
Boro, Alex
Cascino, Gregory
Consalvo, Damian
Crumrine, Patricia
Devinsky, Orrin
Dlugos, Dennis
Epstein, Michael P.
Fiol, Miguel
Fountain, Nathan B.
French, Jacqueline
Friedman, Daniel
Geller, Eric B.
Glauser, Tracy
Glynn, Simon
Haas, Kevin
Haut, Sheryl R.
Hayward, Jean
Helmers, Sandra L.
Joshi, Sucheta
Kanner, Andres
Kirsch, Heidi E.
Knowlton, Robert C.
Kossoff, Eric H.
Kuperman, Rachel
Kuzniecky, Ruben
Lowenstein, Daniel H.
McGuire, Shannon M.
Motika, Paul V.
Novotny, Edward J.
Ottman, Ruth
Paolicchi, Juliann M.
Parent, Jack
Park, Kristen
Poduri, Annapurna
Sadleir, Lynette G.
Scheffer, Ingrid E.
Shellhaas, Renée A
Sherr, Elliott
Shih, Jerry J.
Singh, Rani
Sirven, Joseph
Smith, Michael C.
Sullivan, Joe
Thio, Liu Lin
Venkat, Anu
Vining, Eileen P. G.
Von Allmen, Gretchen K.
Weisenberg, Judith L.
Widdess-Walsh, Peter
Winawer, Melodie R.
Allen, Andrew S.
Berkovic, Samuel F.
Cossette, Patrick
Delanty, Norman
Dlugos, Dennis
Eichler, Evan E.
Epstein, Michael P.
Glauser, Tracy
Goldstein, David B.
Han, Yujun
Heinzen, Erin L.
Johnson, Michael R.
Kuzniecky, Ruben
Lowenstein, Daniel H.
Marson, Anthony G.
Mefford, Heather C.
Nieh, Sahar Esmaeeli
O'Brien, Terence J.
Ottman, Ruth
Petrou, Stephen
Petrovski, Slavé
Poduri, Annapurna
Ruzzo, Elizabeth K.
Scheffer, Ingrid E.
Sherr, Elliott

January 2017

(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium memb...

Genetic variations and associated pathophysiology in the management of epilepsy

Mulley JC
Dibbens LM

August 2011

John C Mulley1,2, Leanne M Dibbens31Department of Genetic Medicine, Directorate of Genetics and Mole...

Molecular genetics of epilepsy and mental retardation limited to females (EFMR).

Hynes, Kim Elizabeth

January 2010

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder, which ...

Molecular basis for intellectual disability and epilepsy: role of the human homeobox gene ARX / Desiree Cloosterman.

Cloosterman, Desiree

January 2005

Includes 2 amendment sheets attached to back pages."November 2005"Bibliography: leaves 242-281.ix, 2...

EPILEPSY AND GENETICS

Kvernmo, Nadja Anette Myrvik

January 2006

The genetic component of epilepsy has been known for over two millennia. The most commonly reported ...

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

July 2015

none13noThis article is corrected by: Errata: Erratum Volume 54, Issue 9, 1709, 10.1111/epi.12384, W...

The genetic basis of human craniosynostosis syndromes / Georgina Hollway.

Hollway, Georgina

January 1998

Copies of author's previously published works inserted.Bibliography: leaves 195-222.x, 222, [46] lea...

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel, Carolien G F
Brilstra, Eva H
van Kempen, Marjan J A
Van't Slot, Ruben
Nijman, Isaac J
Afawi, Zaid
De Jonghe, Peter
Dj\ue9mi\ue9, Tania
Guerrini, Renzo
Hardies, Katia
Helbig, Ingo
Hendrickx, Rik
Kanaan, Moine
Kramer, Uri
Lehesjoki, Anna-Elina E
Lemke, Johannes R
Marini, Carla
Mei, Davide
M\uf8ller, Rikke S
Pendziwiat, Manuela
Stamberger, Hannah
Suls, Arvid
Weckhuysen, S
Balling, R
Barisic, N
Baulac, S
Caglayan, Hs
Craiu, Dc
Depienne, C
Gormley, P
Hjalgrim, H
Hoffman-Zacharska, D
J\ue4hn, J
Klein, Km
Komarek, V
LeGuern, E
Lerche, H
May, P
Muhle, H
Pal, D
Palotie, A
Rosenow, F
Selmer, K
Serratosa, Jm
Sisodiya, Sm
Stephani, U
Sterbova, K
Striano, P
Talvik, T
van Haelst, M
Verbeek, N
von Spiczak, S
Weber, Yg
Koeleman, Bpc.

January 2016

Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few poss...

Recent patents on epilepsy genetics

Napolioni V.

January 2009

The field of epilepsy genetics is contentious, particularly when it concerns the common epilepsies. ...

Positional cloning identifies a candidate gene for mental retardation and epilespsy / by Kavita Bhalla.

Bhalla, Kavita

January 2001

Includes errata attached to inside front cover and first leaf.Includes a list of publications co-aut...

Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))

Ghosh S. G.
Becker K.
Huang H.
Salazar T. D.
Chai G.
Salpietro V.
Al-Gazali L.
Waisfisz Q.
Wang H.
Vaux K. K.
Stanley V.
Manole A.
Akpulat U.
Weiss M. M.
Efthymiou S.
Hanna M. G.
Minetti C.
Striano P.
Pisciotta L.
De Grandis E.
Altmuller J.
Weixler L.
Nurnberg P.
Thiele H.
Yis U.
Okur T. D.
Polat A. I.
Amiri N.
Doosti M.
Karimani E. G.
Toosi M. B.
Haddad G.
Karakaya M.
Wirth B.
van Hagen J. M.
Wolf N. I.
Maroofian R.
Houlden H.
Cirak S.
Gleeson J. G.

January 2021

(The American Journal of Human Genetics 103, 431–439; September 6, 2018) Lisa Weixler has been added...

doi:10.1155/2012/876234 Review Article From Genetics to Genomics of Epilepsy

Silvio Garofalo
Marisa Cornacchione
Alfonso Di Costanzo

August 2016

Corrigendum to “Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC” [J. Eur. Paediatr. Neurol. 20 (2) (2016) 203–211 (S1090379815002160), (10.1016/j.ejpn.2015.12.005)]

Curatolo, Paolo
Aronica, Eleonora
Jansen, Anna
Jansen, Floor
Kotulska, Katarzyna
Lagae, Lieven
Moavero, Romina
Jozwiak, Sergiusz

January 2022

Text of the corrigendum: The authors regret that the printed version of the above article contained ...

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170]

Myers, K.A.
White, S.M.
Mohammed, S.
Metcalfe, K.A.
Fry, A.E.
Wraige, E.
Vasudevan, P.C.
Balasubramanian, M.
Scheffer, I.E.

November 2018

The authors regret an error in our article “Childhood-onset generalized epilepsy in Bainbridge-Roper...

Molecular biology and genetics of epilepsy.

Willmore, L. James
Ueda, Yuto

April 2002

Genetic and molecular biological methodologies are being applied to the study of patients with epile...

Erratum : De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Appenzeller, Silke
Balling, Rudi
Barisic, Nina
Baulac, Stéphanie
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Depienne, Christel
Dimova, Petia
Djémié, Tania
Gormley, Padhraig
Guerrini, Renzo
Helbig, Ingo
Hjalgrim, Helle
Hoffman-Zacharska, Dorota
Jähn, Johanna A.
Klein, Karl Martin
Koeleman, Bobby
Komarek, Vladimir
Krause, Roland
Kuhlenbäumer, Gregor
Leguern, Eric
Lehesjoki, Anna-Elina
Lemke, Johannes R.
Lerche, Holger
Linnankivi, Tarja
Marini, Carla
May, Patrick
Møller, Rikke S.
Muhle, Hiltrud
Pal, Deb
Palotie, Aarno
Pendziwiat, Manuela
Robbiano, Angela
Roelens, Filip
Rosenow, Felix
Selmer, Kaja
Serratosa, Jose M.
Sisodiya, Sanjay M.
Stephani, Ulrich
Sterbova, Katalin
Striano, Pasquale
Suls, Arvid
Talvik, Tiina
von Spiczak, Sarah
Weber, Yvonne G.
Weckhuysen, Sarah
Zara, Federico
Abou-Khalil, Bassel
Alldredge, Brian K.
Andermann, Eva
Andermann, Frederick
Amrom, Dina
Bautista, Jocelyn F.
Berkovic, Samuel F.
Bluvstein, Judith
Boro, Alex
Cascino, Gregory
Consalvo, Damian
Crumrine, Patricia
Devinsky, Orrin
Dlugos, Dennis
Epstein, Michael P.
Fiol, Miguel
Fountain, Nathan B.
French, Jacqueline
Friedman, Daniel
Geller, Eric B.
Glauser, Tracy
Glynn, Simon
Haas, Kevin
Haut, Sheryl R.
Hayward, Jean
Helmers, Sandra L.
Joshi, Sucheta
Kanner, Andres
Kirsch, Heidi E.
Knowlton, Robert C.
Kossoff, Eric H.
Kuperman, Rachel
Kuzniecky, Ruben
Lowenstein, Daniel H.
McGuire, Shannon M.
Motika, Paul V.
Novotny, Edward J.
Ottman, Ruth
Paolicchi, Juliann M.
Parent, Jack
Park, Kristen
Poduri, Annapurna
Sadleir, Lynette G.
Scheffer, Ingrid E.
Shellhaas, Renée A
Sherr, Elliott
Shih, Jerry J.
Singh, Rani
Sirven, Joseph
Smith, Michael C.
Sullivan, Joe
Thio, Liu Lin
Venkat, Anu
Vining, Eileen P. G.
Von Allmen, Gretchen K.
Weisenberg, Judith L.
Widdess-Walsh, Peter
Winawer, Melodie R.
Allen, Andrew S.
Berkovic, Samuel F.
Cossette, Patrick
Delanty, Norman
Dlugos, Dennis
Eichler, Evan E.
Epstein, Michael P.
Glauser, Tracy
Goldstein, David B.
Han, Yujun
Heinzen, Erin L.
Johnson, Michael R.
Kuzniecky, Ruben
Lowenstein, Daniel H.
Marson, Anthony G.
Mefford, Heather C.
Nieh, Sahar Esmaeeli
O'Brien, Terence J.
Ottman, Ruth
Petrou, Stephen
Petrovski, Slavé
Poduri, Annapurna
Ruzzo, Elizabeth K.
Scheffer, Ingrid E.
Sherr, Elliott

January 2017

(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium memb...

Genetic variations and associated pathophysiology in the management of epilepsy

Mulley JC
Dibbens LM

August 2011

John C Mulley1,2, Leanne M Dibbens31Department of Genetic Medicine, Directorate of Genetics and Mole...

Molecular genetics of epilepsy and mental retardation limited to females (EFMR).

Hynes, Kim Elizabeth

January 2010

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder, which ...

Molecular basis for intellectual disability and epilepsy: role of the human homeobox gene ARX / Desiree Cloosterman.

Cloosterman, Desiree

January 2005

Includes 2 amendment sheets attached to back pages."November 2005"Bibliography: leaves 242-281.ix, 2...

EPILEPSY AND GENETICS

Kvernmo, Nadja Anette Myrvik

January 2006

The genetic component of epilepsy has been known for over two millennia. The most commonly reported ...

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

July 2015

none13noThis article is corrected by: Errata: Erratum Volume 54, Issue 9, 1709, 10.1111/epi.12384, W...

The genetic basis of human craniosynostosis syndromes / Georgina Hollway.

Hollway, Georgina

January 1998

Copies of author's previously published works inserted.Bibliography: leaves 195-222.x, 222, [46] lea...

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

de Kovel, Carolien G F
Brilstra, Eva H
van Kempen, Marjan J A
Van't Slot, Ruben
Nijman, Isaac J
Afawi, Zaid
De Jonghe, Peter
Dj\ue9mi\ue9, Tania
Guerrini, Renzo
Hardies, Katia
Helbig, Ingo
Hendrickx, Rik
Kanaan, Moine
Kramer, Uri
Lehesjoki, Anna-Elina E
Lemke, Johannes R
Marini, Carla
Mei, Davide
M\uf8ller, Rikke S
Pendziwiat, Manuela
Stamberger, Hannah
Suls, Arvid
Weckhuysen, S
Balling, R
Barisic, N
Baulac, S
Caglayan, Hs
Craiu, Dc
Depienne, C
Gormley, P
Hjalgrim, H
Hoffman-Zacharska, D
J\ue4hn, J
Klein, Km
Komarek, V
LeGuern, E
Lerche, H
May, P
Muhle, H
Pal, D
Palotie, A
Rosenow, F
Selmer, K
Serratosa, Jm
Sisodiya, Sm
Stephani, U
Sterbova, K
Striano, P
Talvik, T
van Haelst, M
Verbeek, N
von Spiczak, S
Weber, Yg
Koeleman, Bpc.

January 2016

Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few poss...

Recent patents on epilepsy genetics

Napolioni V.

January 2009

The field of epilepsy genetics is contentious, particularly when it concerns the common epilepsies. ...

Molecular genetics of epilepsy / by Robyn Wallace.

Abstract

Extracted data

Molecular genetics of epilepsy / by Robyn Wallace.

Abstract

Extracted data

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