Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

Corbett, M.
Schwake, M.
Bahlo, M.
Dibbens, L.M.
Lin, M.
Gandolfo, L.C.
Vears, D.F.
O'Sullivan, J.D.
Robertson, T.
Bayly, M.A.
Gardner, A.E.
Vlaar, A.M.M.
Korenke, G.C.
Bloem, B.R.
Coo, I.F.M. de
Verhagen, J.M.
Lehesjoki, A.E.
Gecz, J.
Berkovic, S.F.

January 2011

Item does not contain fulltextThe progressive myoclonus epilepsies (PMEs) are a group of predominant...

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders

Mastrangelo, Mario
Sartori, Stefano
Simonati, Alessandro
Brinciotti, Mario
MORO, EMILIA FRANCESCA
Nosadini, Margherita
Pezzini, Francesco
Doccini, Stefano
Santorelli, Filippo Maria
Leuzzi, Vincenzo

January 2018

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and...

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

van den Ameele, Jelle
Jedlickova, Ivana
Pristoupilova, Anna
Sieben, Anne
Van Mossevelde, Sara
Ceuterick-de Groote, Chantal
Hůlková, Helena
Matej, Radoslav
Meurs, Alfred
Van Broeckhoven, Christine
Berkovic, Samuel F
Santens, Patrick
Kmoch, Stanislav
Dermaut, Bart

January 2018

Background: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in whi...

Novel Mutations Consolidate Kctd7 As A Progressive Myoclonus Epilepsy Gene

Kousi, Maria
Anttila, Verneri
Schulz, Angela
Calafato, Stella
Jakkula, Eveliina
Riesch, Erik
Myllykangas, Liisa
Kalimo, Hannu
Topcu, Meral
Gokben, Sarenur
Alehan, Fusun
Lemke, Johannes R.
Alber, Michael
Palotie, Aarno
Kopra, Outi
Lehesjoki, Anna-Elina

January 2012

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and geneticall...

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Kousi M.
Anttila V.
Schulz A.
Calafato S.
Jakkula E.
Riesch E.
Myllykangas L.
Kalimo H.
Topçu M.
Gökben S.
Alehan F.
Lemke J.R.
Alber M.
Palotie A.
Kopra O.
Lehesjoki A.-E.

January 2012

PubMed ID: 22693283Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinic...

ORIGINAL ARTICLE Novel mutations consolidate KCTD7 as a progressive

October 2016

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and geneticall...

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, M.
Berkovic, S. F.
Dibbens, L. M.
Oliver, K. L.
Maljevic, S.
Bayly, M. A.
Joensuu, T.
Canafoglia, L.
Franceschetti, S.
Michelucci, R.
Markkinen, S.
Heron, S. E.
Hildebrand, M. S.
Andermann, E.
Andermann, F.
Gambardella, A.
TINUPER, PAOLO
LICCHETTA, LAURA
Scheffer, I. E.
Criscuolo, C.
Filla, A.
Ferlazzo, E.
Ahmad, J.
Ahmad, A.
Baykan, B.
Said, E.
Topcu, M.
Riguzzi, P.
King, M. D.
Ozkara, C.
Andrade, D. M.
Engelsen, B. A.
Crespel, A.
Lindenau, M.
Lohmann, E.
Saletti, V.
Massano, J.
Privitera, M.
Espay, A. J.
Kauffmann, B.
Duchowny, M.
Moller, R. S.
Straussberg, R.
Afawi, Z.
Ben Zeev, B.
Samocha, K. E.
Daly, M. J.
Petrou, S.
Lerche, H.
Palotie, A.
Lehesjoki, A. E.

January 2015

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with ac...

A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy

Muona, Mikko
Berkovic, Samuel F.
Dibbens, Leanne M.
Oliver, Karen L.
Maljevic, Snezana
Bayly, Marta A.
Joensuu, Tarja
Canafoglia, Laura
Franceschetti, Silvana
Michelucci, Roberto
Markkinen, Salla
Heron, Sarah E.
Hildebrand, Michael S.
Andermann, Eva
Andermann, Frederick
Gambardella, Antonio
Tinuper, Paolo
Licchetta, Laura
Scheffer, Ingrid E.
Criscuolo, Chiara
Filla, Alessandro
Ferlazzo, Edoardo
Ahmad, Jamil
Ahmad, Adeel
Baykan, Betul
Said, Edith
Topcu, Meral
Riguzzi, Patrizia
King, Mary D.
Ozkara, Cigdem
Andrade, Danielle M.
Engelsen, Bernt A.
Crespel, Arielle
Lindenau, Matthias
Lohmann, Ebba
Saletti, Veronica
Massano, Joao
Privitera, Michael
Espay, Alberto J.
Kauffmann, Birgit
Duchowny, Michael
Moller, Rikke S.
Straussberg, Rachel
Afawi, Zaid
Ben-Zeev, Bruria
Samocha, Kaitlin E.
Daly, Mark J.
Petrou, Steven
Lerche, Holger
Palotie, Aarno
Lehesjoki, Anna-Elina

January 2015

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with ac...

Progressive myoclonic encephalopathies: From phenomenology to genes and proteins

Morano, Alessandra
Di Bonaventura, Carlo

January 2012

The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalized epilepsies caused...

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Courage C.
Oliver K. L.
Park E. J.
Cameron J. M.
Grabinska K. A.
Muona M.
Canafoglia L.
Gambardella A.
Said E.
Afawi Z.
Baykan B.
Brandt C.
di Bonaventura C.
Chew H. B.
Criscuolo C.
Dibbens L. M.
Castellotti B.
Riguzzi P.
Labate A.
Filla A.
Giallonardo A. T.
Berecki G.
Jackson C. B.
Joensuu T.
Damiano J. A.
Kivity S.
Korczyn A.
Palotie A.
Striano P.
Uccellini D.
Giuliano L.
Andermann E.
Scheffer I. E.
Michelucci R.
Bahlo M.
Franceschetti S.
Sessa W. C.
Berkovic S. F.
Lehesjoki A. -E.

January 2021

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous...

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Van Bogaert, Patrick
Azizieh, Regis
Désir, Julie
Aeby, Alec
De Meirleir, Linda
Laes, Jean-François
Christiaens, Florence
Abramowicz, Marc-Joel

January 2007

OBJECTIVE: We investigated a large consanguineous Moroccan family with progressive myoclonic epileps...

Advances in the genetics of progressive myoclonus epilepsy

Delgado-Escueta, A.V.
Ganesh, Subramaniam
Yamakawa, Kazuhiro

January 2001

The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of sti...

Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report

Xing-wang SONG
Yu-qing GUAN
Qian-yi WU
Yong-hong YI

April 2018

Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclon...

Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases

Franceschetti S.
Antozzi C.
Binelli S.
Carrara F.
Nardocci N.
Zeviani M.
Avanzini G.

January 1993

Electroclinical, morphological, biochemical and molecular genetic data from 17 patients affected by ...

Mutation of a Potassium Channel–Related

Gene Progressive
Myoclonic Epilepsy
Marc J. Abramowicz

March 2015

Objective: We investigated a large consanguineous Moroccan family with progressive myoclonic epileps...

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

Corbett, M.
Schwake, M.
Bahlo, M.
Dibbens, L.M.
Lin, M.
Gandolfo, L.C.
Vears, D.F.
O'Sullivan, J.D.
Robertson, T.
Bayly, M.A.
Gardner, A.E.
Vlaar, A.M.M.
Korenke, G.C.
Bloem, B.R.
Coo, I.F.M. de
Verhagen, J.M.
Lehesjoki, A.E.
Gecz, J.
Berkovic, S.F.

January 2011

Item does not contain fulltextThe progressive myoclonus epilepsies (PMEs) are a group of predominant...

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders

Mastrangelo, Mario
Sartori, Stefano
Simonati, Alessandro
Brinciotti, Mario
MORO, EMILIA FRANCESCA
Nosadini, Margherita
Pezzini, Francesco
Doccini, Stefano
Santorelli, Filippo Maria
Leuzzi, Vincenzo

January 2018

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and...

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

van den Ameele, Jelle
Jedlickova, Ivana
Pristoupilova, Anna
Sieben, Anne
Van Mossevelde, Sara
Ceuterick-de Groote, Chantal
Hůlková, Helena
Matej, Radoslav
Meurs, Alfred
Van Broeckhoven, Christine
Berkovic, Samuel F
Santens, Patrick
Kmoch, Stanislav
Dermaut, Bart

January 2018

Background: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in whi...

Novel Mutations Consolidate Kctd7 As A Progressive Myoclonus Epilepsy Gene

Kousi, Maria
Anttila, Verneri
Schulz, Angela
Calafato, Stella
Jakkula, Eveliina
Riesch, Erik
Myllykangas, Liisa
Kalimo, Hannu
Topcu, Meral
Gokben, Sarenur
Alehan, Fusun
Lemke, Johannes R.
Alber, Michael
Palotie, Aarno
Kopra, Outi
Lehesjoki, Anna-Elina

January 2012

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and geneticall...

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Kousi M.
Anttila V.
Schulz A.
Calafato S.
Jakkula E.
Riesch E.
Myllykangas L.
Kalimo H.
Topçu M.
Gökben S.
Alehan F.
Lemke J.R.
Alber M.
Palotie A.
Kopra O.
Lehesjoki A.-E.

January 2012

PubMed ID: 22693283Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinic...

ORIGINAL ARTICLE Novel mutations consolidate KCTD7 as a progressive

October 2016

Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and geneticall...

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, M.
Berkovic, S. F.
Dibbens, L. M.
Oliver, K. L.
Maljevic, S.
Bayly, M. A.
Joensuu, T.
Canafoglia, L.
Franceschetti, S.
Michelucci, R.
Markkinen, S.
Heron, S. E.
Hildebrand, M. S.
Andermann, E.
Andermann, F.
Gambardella, A.
TINUPER, PAOLO
LICCHETTA, LAURA
Scheffer, I. E.
Criscuolo, C.
Filla, A.
Ferlazzo, E.
Ahmad, J.
Ahmad, A.
Baykan, B.
Said, E.
Topcu, M.
Riguzzi, P.
King, M. D.
Ozkara, C.
Andrade, D. M.
Engelsen, B. A.
Crespel, A.
Lindenau, M.
Lohmann, E.
Saletti, V.
Massano, J.
Privitera, M.
Espay, A. J.
Kauffmann, B.
Duchowny, M.
Moller, R. S.
Straussberg, R.
Afawi, Z.
Ben Zeev, B.
Samocha, K. E.
Daly, M. J.
Petrou, S.
Lerche, H.
Palotie, A.
Lehesjoki, A. E.

January 2015

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with ac...

A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy

Muona, Mikko
Berkovic, Samuel F.
Dibbens, Leanne M.
Oliver, Karen L.
Maljevic, Snezana
Bayly, Marta A.
Joensuu, Tarja
Canafoglia, Laura
Franceschetti, Silvana
Michelucci, Roberto
Markkinen, Salla
Heron, Sarah E.
Hildebrand, Michael S.
Andermann, Eva
Andermann, Frederick
Gambardella, Antonio
Tinuper, Paolo
Licchetta, Laura
Scheffer, Ingrid E.
Criscuolo, Chiara
Filla, Alessandro
Ferlazzo, Edoardo
Ahmad, Jamil
Ahmad, Adeel
Baykan, Betul
Said, Edith
Topcu, Meral
Riguzzi, Patrizia
King, Mary D.
Ozkara, Cigdem
Andrade, Danielle M.
Engelsen, Bernt A.
Crespel, Arielle
Lindenau, Matthias
Lohmann, Ebba
Saletti, Veronica
Massano, Joao
Privitera, Michael
Espay, Alberto J.
Kauffmann, Birgit
Duchowny, Michael
Moller, Rikke S.
Straussberg, Rachel
Afawi, Zaid
Ben-Zeev, Bruria
Samocha, Kaitlin E.
Daly, Mark J.
Petrou, Steven
Lerche, Holger
Palotie, Aarno
Lehesjoki, Anna-Elina

January 2015

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with ac...

Progressive myoclonic encephalopathies: From phenomenology to genes and proteins

Morano, Alessandra
Di Bonaventura, Carlo

January 2012

The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalized epilepsies caused...

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Courage C.
Oliver K. L.
Park E. J.
Cameron J. M.
Grabinska K. A.
Muona M.
Canafoglia L.
Gambardella A.
Said E.
Afawi Z.
Baykan B.
Brandt C.
di Bonaventura C.
Chew H. B.
Criscuolo C.
Dibbens L. M.
Castellotti B.
Riguzzi P.
Labate A.
Filla A.
Giallonardo A. T.
Berecki G.
Jackson C. B.
Joensuu T.
Damiano J. A.
Kivity S.
Korczyn A.
Palotie A.
Striano P.
Uccellini D.
Giuliano L.
Andermann E.
Scheffer I. E.
Michelucci R.
Bahlo M.
Franceschetti S.
Sessa W. C.
Berkovic S. F.
Lehesjoki A. -E.

January 2021

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous...

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Van Bogaert, Patrick
Azizieh, Regis
Désir, Julie
Aeby, Alec
De Meirleir, Linda
Laes, Jean-François
Christiaens, Florence
Abramowicz, Marc-Joel

January 2007

OBJECTIVE: We investigated a large consanguineous Moroccan family with progressive myoclonic epileps...

Advances in the genetics of progressive myoclonus epilepsy

Delgado-Escueta, A.V.
Ganesh, Subramaniam
Yamakawa, Kazuhiro

January 2001

The genetic progressive myoclonus epilepsies (PMEs) are clinically characterized by the triad of sti...

Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report

Xing-wang SONG
Yu-qing GUAN
Qian-yi WU
Yong-hong YI

April 2018

Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclon...

Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases

Franceschetti S.
Antozzi C.
Binelli S.
Carrara F.
Nardocci N.
Zeviani M.
Avanzini G.

January 1993

Electroclinical, morphological, biochemical and molecular genetic data from 17 patients affected by ...

Mutation of a Potassium Channel–Related

Gene Progressive
Myoclonic Epilepsy
Marc J. Abramowicz

March 2015

Objective: We investigated a large consanguineous Moroccan family with progressive myoclonic epileps...

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

Corbett, M.
Schwake, M.
Bahlo, M.
Dibbens, L.M.
Lin, M.
Gandolfo, L.C.
Vears, D.F.
O'Sullivan, J.D.
Robertson, T.
Bayly, M.A.
Gardner, A.E.
Vlaar, A.M.M.
Korenke, G.C.
Bloem, B.R.
Coo, I.F.M. de
Verhagen, J.M.
Lehesjoki, A.E.
Gecz, J.
Berkovic, S.F.

January 2011

Item does not contain fulltextThe progressive myoclonus epilepsies (PMEs) are a group of predominant...

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders

Mastrangelo, Mario
Sartori, Stefano
Simonati, Alessandro
Brinciotti, Mario
MORO, EMILIA FRANCESCA
Nosadini, Margherita
Pezzini, Francesco
Doccini, Stefano
Santorelli, Filippo Maria
Leuzzi, Vincenzo

January 2018

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and...

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

van den Ameele, Jelle
Jedlickova, Ivana
Pristoupilova, Anna
Sieben, Anne
Van Mossevelde, Sara
Ceuterick-de Groote, Chantal
Hůlková, Helena
Matej, Radoslav
Meurs, Alfred
Van Broeckhoven, Christine
Berkovic, Samuel F
Santens, Patrick
Kmoch, Stanislav
Dermaut, Bart

January 2018

Background: The progressive myoclonic epilepsies (PME) are a heterogeneous group of disorders in whi...

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Abstract

Extracted data

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Abstract

Extracted data

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