Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh, Sakshi
Slaugh, Rachel
Granadillo, Jorge
et al.,

August 2020

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with ...

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099

Schwarz, Niklas
Seiffert, Simone
Pendziwiat, Manuela
Rademacher, Annika
Brünger, Tobias
Hedrich, Ulrike B. S.
Augustijn, Paul B.
Baier, Hartmut
Bayat, Allan
Bisulli, Francesca
Buono, Russell J.
Bruria, Ben Zeev
Doyle, Michael G.
Guerrini, Renzo
Heimer, Gali
Iacomino, Michele
Kearney, Hugh
Klein, Karl Martin
Kousiappa, Ioanna
Kunz, Wolfram S.
Lerche, Holger
Licchetta, Laura
Lohmann, Ebba
Minardi, Raffaella
McDonald, Marie
Montgomery, Sarah
Mulahasanovic, Lejla
Oegema, Renske
Ortal, Barel
Papacostas, Savvas S.
Ragona, Francesca
Granata, Tiziana
Reif, Philipp S.
Rosenow, Felix
Rothschild, Annick
Scudieri, Paolo
Striano, Pasquale
Tinuper, Paolo
Tanteles, George A.
Vetro, Annalisa
Zahnert, Felix
Zara, Federico
Lal, Dennis
May, Patrick
Muhle, Hiltrud
Helbig, Ingo
Weber, Yvonne

May 2021

Background KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2)...

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Sands T. T.
Miceli F.
Lesca G.
Beck A. E.
Sadleir L. G.
Arrington D. K.
Schonewolf-Greulich B.
Moutton S.
Lauritano A.
Nappi P.
Soldovieri M. V.
Scheffer I. E.
Mefford H. C.
Stong N.
Heinzen E. L.
Goldstein D. B.
Perez A. G.
Kossoff E. H.
Stocco A.
Sullivan J. A.
Shashi V.
Gerard B.
Francannet C.
Bisgaard A. -M.
Tumer Z.
Willems M.
Rivier F.
Vitobello A.
Thakkar K.
Rajan D. S.
Barkovich A. J.
Weckhuysen S.
Cooper E. C.
Taglialatela M.
Cilio M. R.

January 2019

Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring ...

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Malerba, Federica
Alberini, Giulio
Balagura, Ganna
Marchese, Francesca
Amadori, Elisabetta
Riva, Antonella
Vari, Maria Stella
Gennaro, Elena
Madia, Francesca
Salpietro, Vincenzo
Angriman, Marco
Giordano, Lucio
Accorsi, Patrizia
Trivisano, Marina
Specchio, Nicola
Russo, Angelo
Gobbi, Giuseppe
Raviglione, Federico
Pisano, Tiziana
Marini, Carla
Mancardi, Maria M
Nobili, Lino
Freri, Elena
Castellotti, Barbara
Capovilla, Giuseppe
Coppola, Antonietta
Verrotti, Alberto
Martelli, Paola
Miceli, Francesco
Maragliano, Luca
Benfenati, Fabio
Cilio, Maria R
Johannesen, Kathrine M
Møller, Rikke S
Ceulemans, Berten
Minetti, Carlo
Weckhuysen, Sarah
Zara, Federico
Taglialatela, Maurizio
Striano, Pasquale

January 2020

Early identification of de novo KCNQ2 variants in patients with epilepsy raises prognostic issues to...

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Schwarz N.
Seiffert S.
Pendziwiat M.
Rademacher A. V.
Brunger T.
Hedrich U. B. S.
Augustijn P. B.
Baier H.
Bayat A.
Bisulli F.
Buono R. J.
Bruria B. Z.
Doyle M. G.
Guerrini R.
Heimer G.
Iacomino M.
Kearney H.
Klein K. M.
Kousiappa I.
Kunz W. S.
Lerche H.
Licchetta L.
Lohmann E.
Minardi R.
McDonald M.
Montgomery S.
Mulahasanovic L.
Oegema R.
Ortal B.
Papacostas S. S.
Ragona F.
Granata T.
Reif P. S.
Rosenow F.
Rothschild A.
Scudieri P.
Striano P.
Tinuper P.
Tanteles G. A.
Vetro A.
Zahnert F.
Goldberg E. M.
Zara F.
Lal D.
May P.
Muhle H.
Helbig I.
Weber Y.

January 2022

Background and ObjectivesKCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Milh, Mathieu
Boutry-Kryza, Nadia
Sutera-Sardo, Julie
Mignot, Cyril
Auvin, Stéphane
Lacoste, Caroline
Villeneuve, Nathalie
Roubertie, Agathe
Heron, Bénédicte
Carneiro, Maryline
Kaminska, Anna
Altuzarra, Cécilia
Blanchard, Gaëlle
Ville, Dorothée
Barthez, Marie,
Heron, Delphine
Gras, Domitille
Afenjar, Alexandra
Dorison, Nathalie
Doummar, Diane
Billette de Villemeur, Thierry
An, Isabelle
Jacquette, Aurélia
Charles, Perrine
Perrier, Julie
Isidor, Bertrand
Vercueil, Laurent
Chabrol, Brigitte
Badens, Catherine
Lesca, Gaetan
Villard, Laurent

May 2013

International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

De Kovel, C.
Syrbe, S.
Brilstra, E.
Verbeek, N.
Kerr, B.
Dubbs, H.
Bayat, A.
Desai, S.
Naidu, S.
Srivastava, S.
Cagaylan, H.
Yis, U.
Saunders, C.
Rook, M.
Plugge, S.
Muhle, H.
Afawi, Z.
Klein, K.
Jayaraman, V.
Rajagopalan, R.
Goldberg, E.
Marsh, E.
Kessler, S.
Bergqvist, C.
Conlin, L.
Krok, B.
Thiffault, I.
Pendziwiat, M.
Helbig, I.
Polster, T.
Borggraefe, I.
Lemke, J.
Van den Boogaardt, M.
Moller, R.
Koeleman, B.

January 2017

Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function varian...

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

McTague, A.
Nair, U.
Malhotra, S.
Meyer, E.
Trump, N.
Gazina, E.V.
Papandreou, A.
Ngoh, A.
Ackermann, S.
Ambegaonkar, G.
Appleton, R.
Desurkar, A.
Eltze, C.
Kneen, R.
Kumar, A.V.
Lascelles, K.
Montgomery, T.
Ramesh, V.
Samanta, R.
Scott, R.H.
Tan, J.
Whitehouse, W.
Poduri, A.
Scheffer, I.E.
Chong, W.K.
Cross, J.H.
Topf, Maya
Petrou, S.
Kurian, M.A.

January 2018

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional conse...

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

McTague, Amy
Nair, Umesh
Malhotra, Sony
Meyer, Esther
Trump, Natalie
Gazina, Elena V.
Papandreou, Apostolos
Ngho, Adeline
Ackermann, Sally
Ambegaonkar, Gautam
Appleton, Richard
Desurkar, Archana
Eltze, Christin
Kneen, Rachel
Kumar, Ajith V.
Lascelles, Karine
Montgomery, Tara
Ramesh, Venkateswaran
Samanta, Rajib
Scott, Richard H.
Tan, Jeen
Whitehouse, William
Poduri, Annapurna
Scheffer, Ingrid E.
Chong, W.K. �Kling �
Cross, J.Helen
Topf, Maya
Petrou, Steven
Kurian, Manju A.

January 2018

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional conse...

A de novo KCNQ2 gene mutation associated with non-familial early onset seizures: Case report and revision of literature data

Laccetta G.
Fiori S.
Giampietri M.
Ferrari A.
Cetica V.
Bernardini M.
Chesi F.
Mazzotti S.
Parrini E.
Ciantelli M.
Guzzetta A.
Ghirri P.

January 2019

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autoso...

KCNQ2 encephalopathy

Millichap, John
Park, Kristen
Tsuchida, Tammy N.
Ben-Zeev, Bruria
Carmant, Lionel
On Behalf of the RIKEE Consortium

October 2016

Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype relationships and...

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Zagaglia, S
Selch, C
Nisevic, JR
Mei, D
Michalak, Z
Hernandez-Hernandez, L
Krithika, S
Vezyroglou, K
Varadkar, SM
Pepler, A
Biskup, S
Leão, M
Gärtner, J
Merkenschlager, A
Jaksch, M
Møller, RS
Gardella, E
Kristiansen, BS
Hansen, LK
Vari, MS
Helbig, KL
Desai, S
Smith-Hicks, CL
Hino-Fukuyo, N
Talvik, T
Laugesaar, R
Ilves, P
Õunap, K
Körber, I
Hartlieb, T
Kudernatsch, M
Winkler, P
Schimmel, M
Hasse, A
Knuf, M
Heinemeyer, J
Makowski, C
Ghedia, S
Subramanian, GM
Striano, P
Thomas, RH
Micallef, C
Thom, M
Werring, DJ
Kluger, GJ
Cross, JH
Guerrini, R
Balestrini, S
Sisodiya, SM

November 2018

OBJECTIVE: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek ...

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Miceli, F
Striano, P
Soldovieri, MV
Fontana, A
Nardello, R
Robiano, A
Bellini, G
Elia, M
Zara, F
Taglialatela, M
Mangano, S

January 2015

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in...

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh, Sakshi
Slaugh, Rachel
Granadillo, Jorge
et al.,

August 2020

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with ...

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099

Schwarz, Niklas
Seiffert, Simone
Pendziwiat, Manuela
Rademacher, Annika
Brünger, Tobias
Hedrich, Ulrike B. S.
Augustijn, Paul B.
Baier, Hartmut
Bayat, Allan
Bisulli, Francesca
Buono, Russell J.
Bruria, Ben Zeev
Doyle, Michael G.
Guerrini, Renzo
Heimer, Gali
Iacomino, Michele
Kearney, Hugh
Klein, Karl Martin
Kousiappa, Ioanna
Kunz, Wolfram S.
Lerche, Holger
Licchetta, Laura
Lohmann, Ebba
Minardi, Raffaella
McDonald, Marie
Montgomery, Sarah
Mulahasanovic, Lejla
Oegema, Renske
Ortal, Barel
Papacostas, Savvas S.
Ragona, Francesca
Granata, Tiziana
Reif, Philipp S.
Rosenow, Felix
Rothschild, Annick
Scudieri, Paolo
Striano, Pasquale
Tinuper, Paolo
Tanteles, George A.
Vetro, Annalisa
Zahnert, Felix
Zara, Federico
Lal, Dennis
May, Patrick
Muhle, Hiltrud
Helbig, Ingo
Weber, Yvonne

May 2021

Background KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2)...

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Sands T. T.
Miceli F.
Lesca G.
Beck A. E.
Sadleir L. G.
Arrington D. K.
Schonewolf-Greulich B.
Moutton S.
Lauritano A.
Nappi P.
Soldovieri M. V.
Scheffer I. E.
Mefford H. C.
Stong N.
Heinzen E. L.
Goldstein D. B.
Perez A. G.
Kossoff E. H.
Stocco A.
Sullivan J. A.
Shashi V.
Gerard B.
Francannet C.
Bisgaard A. -M.
Tumer Z.
Willems M.
Rivier F.
Vitobello A.
Thakkar K.
Rajan D. S.
Barkovich A. J.
Weckhuysen S.
Cooper E. C.
Taglialatela M.
Cilio M. R.

January 2019

Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring ...

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Malerba, Federica
Alberini, Giulio
Balagura, Ganna
Marchese, Francesca
Amadori, Elisabetta
Riva, Antonella
Vari, Maria Stella
Gennaro, Elena
Madia, Francesca
Salpietro, Vincenzo
Angriman, Marco
Giordano, Lucio
Accorsi, Patrizia
Trivisano, Marina
Specchio, Nicola
Russo, Angelo
Gobbi, Giuseppe
Raviglione, Federico
Pisano, Tiziana
Marini, Carla
Mancardi, Maria M
Nobili, Lino
Freri, Elena
Castellotti, Barbara
Capovilla, Giuseppe
Coppola, Antonietta
Verrotti, Alberto
Martelli, Paola
Miceli, Francesco
Maragliano, Luca
Benfenati, Fabio
Cilio, Maria R
Johannesen, Kathrine M
Møller, Rikke S
Ceulemans, Berten
Minetti, Carlo
Weckhuysen, Sarah
Zara, Federico
Taglialatela, Maurizio
Striano, Pasquale

January 2020

Early identification of de novo KCNQ2 variants in patients with epilepsy raises prognostic issues to...

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Schwarz N.
Seiffert S.
Pendziwiat M.
Rademacher A. V.
Brunger T.
Hedrich U. B. S.
Augustijn P. B.
Baier H.
Bayat A.
Bisulli F.
Buono R. J.
Bruria B. Z.
Doyle M. G.
Guerrini R.
Heimer G.
Iacomino M.
Kearney H.
Klein K. M.
Kousiappa I.
Kunz W. S.
Lerche H.
Licchetta L.
Lohmann E.
Minardi R.
McDonald M.
Montgomery S.
Mulahasanovic L.
Oegema R.
Ortal B.
Papacostas S. S.
Ragona F.
Granata T.
Reif P. S.
Rosenow F.
Rothschild A.
Scudieri P.
Striano P.
Tinuper P.
Tanteles G. A.
Vetro A.
Zahnert F.
Goldberg E. M.
Zara F.
Lal D.
May P.
Muhle H.
Helbig I.
Weber Y.

January 2022

Background and ObjectivesKCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Milh, Mathieu
Boutry-Kryza, Nadia
Sutera-Sardo, Julie
Mignot, Cyril
Auvin, Stéphane
Lacoste, Caroline
Villeneuve, Nathalie
Roubertie, Agathe
Heron, Bénédicte
Carneiro, Maryline
Kaminska, Anna
Altuzarra, Cécilia
Blanchard, Gaëlle
Ville, Dorothée
Barthez, Marie,
Heron, Delphine
Gras, Domitille
Afenjar, Alexandra
Dorison, Nathalie
Doummar, Diane
Billette de Villemeur, Thierry
An, Isabelle
Jacquette, Aurélia
Charles, Perrine
Perrier, Julie
Isidor, Bertrand
Vercueil, Laurent
Chabrol, Brigitte
Badens, Catherine
Lesca, Gaetan
Villard, Laurent

May 2013

International audienceBACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic hetero...

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

De Kovel, C.
Syrbe, S.
Brilstra, E.
Verbeek, N.
Kerr, B.
Dubbs, H.
Bayat, A.
Desai, S.
Naidu, S.
Srivastava, S.
Cagaylan, H.
Yis, U.
Saunders, C.
Rook, M.
Plugge, S.
Muhle, H.
Afawi, Z.
Klein, K.
Jayaraman, V.
Rajagopalan, R.
Goldberg, E.
Marsh, E.
Kessler, S.
Bergqvist, C.
Conlin, L.
Krok, B.
Thiffault, I.
Pendziwiat, M.
Helbig, I.
Polster, T.
Borggraefe, I.
Lemke, J.
Van den Boogaardt, M.
Moller, R.
Koeleman, B.

January 2017

Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function varian...

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

McTague, A.
Nair, U.
Malhotra, S.
Meyer, E.
Trump, N.
Gazina, E.V.
Papandreou, A.
Ngoh, A.
Ackermann, S.
Ambegaonkar, G.
Appleton, R.
Desurkar, A.
Eltze, C.
Kneen, R.
Kumar, A.V.
Lascelles, K.
Montgomery, T.
Ramesh, V.
Samanta, R.
Scott, R.H.
Tan, J.
Whitehouse, W.
Poduri, A.
Scheffer, I.E.
Chong, W.K.
Cross, J.H.
Topf, Maya
Petrou, S.
Kurian, M.A.

January 2018

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional conse...

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

McTague, Amy
Nair, Umesh
Malhotra, Sony
Meyer, Esther
Trump, Natalie
Gazina, Elena V.
Papandreou, Apostolos
Ngho, Adeline
Ackermann, Sally
Ambegaonkar, Gautam
Appleton, Richard
Desurkar, Archana
Eltze, Christin
Kneen, Rachel
Kumar, Ajith V.
Lascelles, Karine
Montgomery, Tara
Ramesh, Venkateswaran
Samanta, Rajib
Scott, Richard H.
Tan, Jeen
Whitehouse, William
Poduri, Annapurna
Scheffer, Ingrid E.
Chong, W.K. �Kling �
Cross, J.Helen
Topf, Maya
Petrou, Steven
Kurian, Manju A.

January 2018

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional conse...

A de novo KCNQ2 gene mutation associated with non-familial early onset seizures: Case report and revision of literature data

Laccetta G.
Fiori S.
Giampietri M.
Ferrari A.
Cetica V.
Bernardini M.
Chesi F.
Mazzotti S.
Parrini E.
Ciantelli M.
Guzzetta A.
Ghirri P.

January 2019

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autoso...

KCNQ2 encephalopathy

Millichap, John
Park, Kristen
Tsuchida, Tammy N.
Ben-Zeev, Bruria
Carmant, Lionel
On Behalf of the RIKEE Consortium

October 2016

Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype relationships and...

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Zagaglia, S
Selch, C
Nisevic, JR
Mei, D
Michalak, Z
Hernandez-Hernandez, L
Krithika, S
Vezyroglou, K
Varadkar, SM
Pepler, A
Biskup, S
Leão, M
Gärtner, J
Merkenschlager, A
Jaksch, M
Møller, RS
Gardella, E
Kristiansen, BS
Hansen, LK
Vari, MS
Helbig, KL
Desai, S
Smith-Hicks, CL
Hino-Fukuyo, N
Talvik, T
Laugesaar, R
Ilves, P
Õunap, K
Körber, I
Hartlieb, T
Kudernatsch, M
Winkler, P
Schimmel, M
Hasse, A
Knuf, M
Heinemeyer, J
Makowski, C
Ghedia, S
Subramanian, GM
Striano, P
Thomas, RH
Micallef, C
Thom, M
Werring, DJ
Kluger, GJ
Cross, JH
Guerrini, R
Balestrini, S
Sisodiya, SM

November 2018

OBJECTIVE: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek ...

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Miceli, F
Striano, P
Soldovieri, MV
Fontana, A
Nardello, R
Robiano, A
Bellini, G
Elia, M
Zara, F
Taglialatela, M
Mangano, S

January 2015

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in...

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Singh, Sakshi
Slaugh, Rachel
Granadillo, Jorge
et al.,

August 2020

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with ...

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099

Schwarz, Niklas
Seiffert, Simone
Pendziwiat, Manuela
Rademacher, Annika
Brünger, Tobias
Hedrich, Ulrike B. S.
Augustijn, Paul B.
Baier, Hartmut
Bayat, Allan
Bisulli, Francesca
Buono, Russell J.
Bruria, Ben Zeev
Doyle, Michael G.
Guerrini, Renzo
Heimer, Gali
Iacomino, Michele
Kearney, Hugh
Klein, Karl Martin
Kousiappa, Ioanna
Kunz, Wolfram S.
Lerche, Holger
Licchetta, Laura
Lohmann, Ebba
Minardi, Raffaella
McDonald, Marie
Montgomery, Sarah
Mulahasanovic, Lejla
Oegema, Renske
Ortal, Barel
Papacostas, Savvas S.
Ragona, Francesca
Granata, Tiziana
Reif, Philipp S.
Rosenow, Felix
Rothschild, Annick
Scudieri, Paolo
Striano, Pasquale
Tinuper, Paolo
Tanteles, George A.
Vetro, Annalisa
Zahnert, Felix
Zara, Federico
Lal, Dennis
May, Patrick
Muhle, Hiltrud
Helbig, Ingo
Weber, Yvonne

May 2021

Background KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2)...

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Sands T. T.
Miceli F.
Lesca G.
Beck A. E.
Sadleir L. G.
Arrington D. K.
Schonewolf-Greulich B.
Moutton S.
Lauritano A.
Nappi P.
Soldovieri M. V.
Scheffer I. E.
Mefford H. C.
Stong N.
Heinzen E. L.
Goldstein D. B.
Perez A. G.
Kossoff E. H.
Stocco A.
Sullivan J. A.
Shashi V.
Gerard B.
Francannet C.
Bisgaard A. -M.
Tumer Z.
Willems M.
Rivier F.
Vitobello A.
Thakkar K.
Rajan D. S.
Barkovich A. J.
Weckhuysen S.
Cooper E. C.
Taglialatela M.
Cilio M. R.

January 2019

Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring ...

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Abstract

Extracted data

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Abstract

Extracted data

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