Protocadherin 19 mutations in girls with infantile-onset epilepsy

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Marini, C.
Darra, F.
Specchio, N.
Mei, D.
Terracciano, A.
Parmeggiani, L.
Ferrari, A.
Sicca, F.
Mastrangelo, M.
Spaccini, L.
Canopoli, M. L.
Cesaroni, E.
Zamponi, N.
Caffi, L.
Ricciardelli, P.
Grosso, S.
Pisano, T.
Canevini, M. P.
Granata, T.
Accorsi, P.
Battaglia, D.
Cusmai, R.
Vigevano, F.
Dalla Bernardina, B.
Guerrini, R.

January 2012

PURPOSE: Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable...

The role of X-linked cell adhesion molecule Protocadherin 19 in neurogenesis and synapse formation

Griffiths, Jessica

Mutations in X-linked protocadherin 19 (PCDH19) lead to EIEE9 (Early Infantile Epileptic Encephalopa...

Neurobiology of PCDH19-female epilepsy

Homan, Claire Christine

January 2017

PCDH19-female epilepsy (PCDH19-FE) is a female-limited epilepsy characterised by a spectrum of neuro...

Protocadherin 19 mutations in girls with infantile-onset epilepsy

Mei, Daniele
Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)

January 2010

To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy

Depienne, Christel
Leguern, Eric

April 2012

International audiencePCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid pr...

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Depienne, Christel
Trouillard, Oriane
Bouteiller, Delphine
An, Isabelle
Poirier, Karine
Rivier, François
Berquin, Patrick
Nabbout, Rima
Chaigne, Denys
Steschenko, Dom
Gautier, Agnes
Hoffman-Zacharska, Dorota
Lannuzel, Annie
Lackmy-Port-Lis, Marilyn
Maurey, Hélène
Dusser, Anne
Bru, Marie
Gilbert, Brigitte
Roubertie, Agathe
Kaminska, Anna
Whalen, Sandra
Mignot, Cyril
Lesca, Gaetan
Arzimanoglou, Alexis
Leguern, Eric

November 2010

International audienceMutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial...

1

Chuan Tan
Chloe Shard
Enzo Ranieri
Kim Hynes
Duyen H. Pham
Damian Leach
Mark Corbett
Cheryl Shoubridge
Raman Kumar
Evelyn Douglas
Lam S
Jacinta Mcmahon
Lynette Sadleir
Nicola Specchio
Carla Marini
Renzo Guerrini
Rikke S. Moller
Christel Depienne
Eric Haan
Paul Q. Thomas
Samuel F. Berkovic
Ingrid E. Scheffer
Jozef Gecz

January 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Dibbens, L.
Tarpey, P.
Hynes, K.
Bayly, M.
Scheffer, I.
Smith, R.
Bomar, J.
Sutton, E.
Vandeleur, L.
Shoubridge, C.
Edkins, S.
Turner, S.
Stevens, C.
O'Meara, S.
Tofts, C.
Barthorpe, S.
Buck, G.
Cole, J.
Halliday, K.
Jones, D.
et al.

January 2008

Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inh...

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Specchio N
Marini C
Terracciano A
Mei D
Trivisano M
Sicca F
Fusco L
Cusmai R
Bertini E
Guerrini R
Vigevano F.
DARRA, Francesca
DALLA BERNARDINA, Bernardo

January 2011

Purpose: To describe clinical and neuropsychological features of six consecutive sporadic girls with...

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population

Liu, A.
Xu, X.
Yang, X.
Jiang, Y.
Yang, Z.
Liu, X.
Wu, Y.
Wu, X.
Wei, L.
Zhang, Y.

January 2017

Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in aff...

Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

Baysal, Bahar Toklu
Ozyilmaz, Berk
Gencpinar, Pinar
Unalp, Aycan
Dundar, Nihal Olgac
Ercal, Derya
Ataman, Esra
HIZ, AYŞE SEMRA
ÜLGENALP, AYFER
YİŞ, ULUÇ
Gursoy, SEMRA

March 2020

Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and int...

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report

Kurian, Mary
Korff, Christian
Ranza, Emmanuelle Nathalie
Bernasconi, Andrea
Lübbig, Anja
Nangia, Srishti
Ramelli, Gian Paolo
Wohlrab, Gabriele
Nordli, Douglas R (Jr)
Bast, Thomas

January 2018

In this case report we assess the occurrence of cortical malformations in children with early infant...

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Hynes, Kim
Tarpey, Patrick
Haan, Eric
Turner, Gillian
Christodoulou, John
Leonard, Helen
Gill, Deepak
Stratton, Michael R.
Gecz, Jozef
Scheffer, Ingrid E.
Dibbens, Leanne M.
Bayly, Marta A.
Berkovic, Samuel F.
Smith, Raffaella
Al Raisi, Zahyia
Turner, Samantha J.
Brown, Natasha J.
Desai, Tarishi D.

January 2010

Background: Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked diso...

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

Tan, C.
Shard, C.
Ranieri, E.
Hynes, K.
Pham, D.
Leach, D.
Buchanan, G.
Corbett, M.
Shoubridge, C.
Kumar, R.
Douglas, E.
Nguyen, L.
Mcmahon, J.
Sadleir, L.
Specchio, N.
Marini, C.
Guerrini, R.
Moller, R.
Depienne, C.
Haan, E.
et al.

January 2015

Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental reta...

PCDH19 mutations in female patients from Southern Italy

Gagliardi, Monica
Annesi, Grazia
Sesta, Michela
Tarantino, Patrizia
Conti, Pasquale
Labate, Angelo
Di Rosa, Gabriella
Quattrone, Aldo
Gambardella, Antonio

January 2015

AbstractPurposeMutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilep...

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Marini, C.
Darra, F.
Specchio, N.
Mei, D.
Terracciano, A.
Parmeggiani, L.
Ferrari, A.
Sicca, F.
Mastrangelo, M.
Spaccini, L.
Canopoli, M. L.
Cesaroni, E.
Zamponi, N.
Caffi, L.
Ricciardelli, P.
Grosso, S.
Pisano, T.
Canevini, M. P.
Granata, T.
Accorsi, P.
Battaglia, D.
Cusmai, R.
Vigevano, F.
Dalla Bernardina, B.
Guerrini, R.

January 2012

PURPOSE: Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable...

The role of X-linked cell adhesion molecule Protocadherin 19 in neurogenesis and synapse formation

Griffiths, Jessica

Mutations in X-linked protocadherin 19 (PCDH19) lead to EIEE9 (Early Infantile Epileptic Encephalopa...

Neurobiology of PCDH19-female epilepsy

Homan, Claire Christine

January 2017

PCDH19-female epilepsy (PCDH19-FE) is a female-limited epilepsy characterised by a spectrum of neuro...

Protocadherin 19 mutations in girls with infantile-onset epilepsy

Mei, Daniele
Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)

January 2010

To explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy

Depienne, Christel
Leguern, Eric

April 2012

International audiencePCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid pr...

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Depienne, Christel
Trouillard, Oriane
Bouteiller, Delphine
An, Isabelle
Poirier, Karine
Rivier, François
Berquin, Patrick
Nabbout, Rima
Chaigne, Denys
Steschenko, Dom
Gautier, Agnes
Hoffman-Zacharska, Dorota
Lannuzel, Annie
Lackmy-Port-Lis, Marilyn
Maurey, Hélène
Dusser, Anne
Bru, Marie
Gilbert, Brigitte
Roubertie, Agathe
Kaminska, Anna
Whalen, Sandra
Mignot, Cyril
Lesca, Gaetan
Arzimanoglou, Alexis
Leguern, Eric

November 2010

International audienceMutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial...

1

Chuan Tan
Chloe Shard
Enzo Ranieri
Kim Hynes
Duyen H. Pham
Damian Leach
Mark Corbett
Cheryl Shoubridge
Raman Kumar
Evelyn Douglas
Lam S
Jacinta Mcmahon
Lynette Sadleir
Nicola Specchio
Carla Marini
Renzo Guerrini
Rikke S. Moller
Christel Depienne
Eric Haan
Paul Q. Thomas
Samuel F. Berkovic
Ingrid E. Scheffer
Jozef Gecz

January 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Dibbens, L.
Tarpey, P.
Hynes, K.
Bayly, M.
Scheffer, I.
Smith, R.
Bomar, J.
Sutton, E.
Vandeleur, L.
Shoubridge, C.
Edkins, S.
Turner, S.
Stevens, C.
O'Meara, S.
Tofts, C.
Barthorpe, S.
Buck, G.
Cole, J.
Halliday, K.
Jones, D.
et al.

January 2008

Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inh...

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Specchio N
Marini C
Terracciano A
Mei D
Trivisano M
Sicca F
Fusco L
Cusmai R
Bertini E
Guerrini R
Vigevano F.
DARRA, Francesca
DALLA BERNARDINA, Bernardo

January 2011

Purpose: To describe clinical and neuropsychological features of six consecutive sporadic girls with...

The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population

Liu, A.
Xu, X.
Yang, X.
Jiang, Y.
Yang, Z.
Liu, X.
Wu, Y.
Wu, X.
Wei, L.
Zhang, Y.

January 2017

Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in aff...

Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

Baysal, Bahar Toklu
Ozyilmaz, Berk
Gencpinar, Pinar
Unalp, Aycan
Dundar, Nihal Olgac
Ercal, Derya
Ataman, Esra
HIZ, AYŞE SEMRA
ÜLGENALP, AYFER
YİŞ, ULUÇ
Gursoy, SEMRA

March 2020

Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and int...

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report

Kurian, Mary
Korff, Christian
Ranza, Emmanuelle Nathalie
Bernasconi, Andrea
Lübbig, Anja
Nangia, Srishti
Ramelli, Gian Paolo
Wohlrab, Gabriele
Nordli, Douglas R (Jr)
Bast, Thomas

January 2018

In this case report we assess the occurrence of cortical malformations in children with early infant...

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Hynes, Kim
Tarpey, Patrick
Haan, Eric
Turner, Gillian
Christodoulou, John
Leonard, Helen
Gill, Deepak
Stratton, Michael R.
Gecz, Jozef
Scheffer, Ingrid E.
Dibbens, Leanne M.
Bayly, Marta A.
Berkovic, Samuel F.
Smith, Raffaella
Al Raisi, Zahyia
Turner, Samantha J.
Brown, Natasha J.
Desai, Tarishi D.

January 2010

Background: Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked diso...

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

Tan, C.
Shard, C.
Ranieri, E.
Hynes, K.
Pham, D.
Leach, D.
Buchanan, G.
Corbett, M.
Shoubridge, C.
Kumar, R.
Douglas, E.
Nguyen, L.
Mcmahon, J.
Sadleir, L.
Specchio, N.
Marini, C.
Guerrini, R.
Moller, R.
Depienne, C.
Haan, E.
et al.

January 2015

Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental reta...

PCDH19 mutations in female patients from Southern Italy

Gagliardi, Monica
Annesi, Grazia
Sesta, Michela
Tarantino, Patrizia
Conti, Pasquale
Labate, Angelo
Di Rosa, Gabriella
Quattrone, Aldo
Gambardella, Antonio

January 2015

AbstractPurposeMutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilep...

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Marini, C.
Darra, F.
Specchio, N.
Mei, D.
Terracciano, A.
Parmeggiani, L.
Ferrari, A.
Sicca, F.
Mastrangelo, M.
Spaccini, L.
Canopoli, M. L.
Cesaroni, E.
Zamponi, N.
Caffi, L.
Ricciardelli, P.
Grosso, S.
Pisano, T.
Canevini, M. P.
Granata, T.
Accorsi, P.
Battaglia, D.
Cusmai, R.
Vigevano, F.
Dalla Bernardina, B.
Guerrini, R.

January 2012

PURPOSE: Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable...

The role of X-linked cell adhesion molecule Protocadherin 19 in neurogenesis and synapse formation

Griffiths, Jessica

Mutations in X-linked protocadherin 19 (PCDH19) lead to EIEE9 (Early Infantile Epileptic Encephalopa...

Neurobiology of PCDH19-female epilepsy

Homan, Claire Christine

January 2017

PCDH19-female epilepsy (PCDH19-FE) is a female-limited epilepsy characterised by a spectrum of neuro...

Protocadherin 19 mutations in girls with infantile-onset epilepsy

Abstract

Extracted data

Protocadherin 19 mutations in girls with infantile-onset epilepsy

Abstract

Extracted data

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