KCNJ11 mutations cause sever neuropsychological deficits

Cognitive, neurological and behavioral features in adults with KCNJ11 neonatal diabetes

Shepherd, Maggie
Hattersley, Andrew T.
Zeman, Adam

February 2019

Central nervous system (CNS) features in children with permanent neonatal diabetes (PNDM) due to KCN...

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes

Bowman, P
Day, J
Torrens, L
Shepherd, MH
Knight, BA
Ford, TJ
Flanagan, SE
Chakera, A
Hattersley, AT
Zeman, A

January 2019

This is the author accepted manuscript. The final version is available from American Diabetes Associ...

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn, A
Pearson, E
Antcliff, J
Proks, P
Bruining, G
Slingerland, A
Howard, N
Srinivasan, S
Silva, J
Molnes, J
Edghill, E
Frayling, T
Temple, I
Mackay, D
Shield, J
Sumnik, Z
van Rhijn, A
Wales, J
Clark, P
Gorman, S
Aisenberg, J
Ellard, S
Njølstad, P
Ashcroft, F
Hattersley, A

January 2004

BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months ...

KCNJ11 mutations cause sever neuropsychological deficits

Day, Jacob O.
Torrens, L.
Bowman, Pamela
Shepherd, Maggie
Chakera, Ali J.
Hattersley, Andrew T.
Zeman, Adam

January 2016

KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in br...

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn, AL
Diatloff-Zito, C
Edghill, EL
Bellanné-Chantelot, C
Nivot, S
Coutant, R
Ellard, S
Hattersley, AT
Robert, JJ

July 2006

Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subun...

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

Yu-wen Lin
Anlong Li
Valeria Grasso
Domenica Battaglia
Carlo Colombo
Fabrizio Barbetti
Colin G. Nichols

October 2016

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression

Lin, Y
Li, A
Grasso, V
Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)
Crin\uf2, A
Colombo, C
Barbetti, F
Nichols, Cg

January 2013

ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types w...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with early onset diabetes and a mild form of intermediate DEND: a battle between KATP gain of channel activity and loss of channel expression.

Lin, Y. W
Li, A
Grasso ,V
Battaglia, D
Crinò, A
Colombo, C
Nichols, CG
BARBETTI, FABRIZIO

January 2013

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan, SE
Edghill, EL
Gloyn, AL
Ellard, S
Hattersley, AT

June 2006

AIMS/HYPOTHESIS: Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of th...

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura, K
Horster, F
De Wet, H
Flanagan, SE
Ellard, S
Hattersley, A
Wolf, N
Ashcroft, F
Ebinger, F

January 2007

OBJECTIVES: Activating mutations in the human KCNJ11 gene, encoding the pore-forming subunit (Kir6.2...

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

Vedovato, N.
Cliff, E.
Proks, P.
Poovazhagi, V.
Flanagan, S. E.
Ellard, Sian
Hattersley, Andrew T.
Ashcroft, F. M.

July 2016

The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell meta...

Psychiatric morbidity in children with KCNJ11 neonatal diabetes.

Broadbridge, E.
Knight, Bridget A.
Pettit, L.
Flanagan, Sarah
Reville, M-C
Tonks, J.
Shepherd, Maggie
Ford, T J
Hattersley, Andrew T.
Bowman, Pamela

April 2016

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause...

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Gloyn, Anna L.
Pearson, Ewan R.
Antcliff, Jennifer F.
Proks, Peter
Bruining, Jan
Slingerland, Annabelle S.
Howard, Neville
Srinivasan, Shubha
Silva, José M.C.L.
Molnes, Janne
Edghill, Emma L.
Frayling, Timothy M.
Temple, I. Karen
Mackay, Deborah
Shield, Julain P.H.
Sumnik, Zdenek
Van Rhijn, Adrian
Wales, J.erry K.H.
Clark, Penelope
Gorman, Shaun
Aisenberg, Javier
Ellard, Sian
Njolstad, Pal R.
Ashcroft, Frances M.
Hattersley, Andrew T.

April 2004

Background Patients with permanent neonatal diabetes usually present within the first three months o...

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Edghill, EL
Gloyn, AL
Gillespie, KM
Lambert, AP
Raymond, NT
Swift, PG
Ellard, S
Gale, EA
Hattersley, AT

November 2004

We have recently shown that permanent neonatal diabetes can be caused by activating mutations in KCN...

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn, A
Reimann, F
Girard, C
Edghill, E
Proks, P
Pearson, E
Temple, I
Mackay, D
Shield, J
Freedenberg, D
Noyes, K
Ellard, S
Ashcroft, F
Gribble, F
Hattersley, A

January 2005

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenot...

Cognitive, neurological and behavioral features in adults with KCNJ11 neonatal diabetes

Shepherd, Maggie
Hattersley, Andrew T.
Zeman, Adam

February 2019

Central nervous system (CNS) features in children with permanent neonatal diabetes (PNDM) due to KCN...

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes

Bowman, P
Day, J
Torrens, L
Shepherd, MH
Knight, BA
Ford, TJ
Flanagan, SE
Chakera, A
Hattersley, AT
Zeman, A

January 2019

This is the author accepted manuscript. The final version is available from American Diabetes Associ...

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn, A
Pearson, E
Antcliff, J
Proks, P
Bruining, G
Slingerland, A
Howard, N
Srinivasan, S
Silva, J
Molnes, J
Edghill, E
Frayling, T
Temple, I
Mackay, D
Shield, J
Sumnik, Z
van Rhijn, A
Wales, J
Clark, P
Gorman, S
Aisenberg, J
Ellard, S
Njølstad, P
Ashcroft, F
Hattersley, A

January 2004

BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months ...

KCNJ11 mutations cause sever neuropsychological deficits

Day, Jacob O.
Torrens, L.
Bowman, Pamela
Shepherd, Maggie
Chakera, Ali J.
Hattersley, Andrew T.
Zeman, Adam

January 2016

KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in br...

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn, AL
Diatloff-Zito, C
Edghill, EL
Bellanné-Chantelot, C
Nivot, S
Coutant, R
Ellard, S
Hattersley, AT
Robert, JJ

July 2006

Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subun...

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

Yu-wen Lin
Anlong Li
Valeria Grasso
Domenica Battaglia
Carlo Colombo
Fabrizio Barbetti
Colin G. Nichols

October 2016

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression

Lin, Y
Li, A
Grasso, V
Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)
Crin\uf2, A
Colombo, C
Barbetti, F
Nichols, Cg

January 2013

ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types w...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with early onset diabetes and a mild form of intermediate DEND: a battle between KATP gain of channel activity and loss of channel expression.

Lin, Y. W
Li, A
Grasso ,V
Battaglia, D
Crinò, A
Colombo, C
Nichols, CG
BARBETTI, FABRIZIO

January 2013

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan, SE
Edghill, EL
Gloyn, AL
Ellard, S
Hattersley, AT

June 2006

AIMS/HYPOTHESIS: Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of th...

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura, K
Horster, F
De Wet, H
Flanagan, SE
Ellard, S
Hattersley, A
Wolf, N
Ashcroft, F
Ebinger, F

January 2007

OBJECTIVES: Activating mutations in the human KCNJ11 gene, encoding the pore-forming subunit (Kir6.2...

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

Vedovato, N.
Cliff, E.
Proks, P.
Poovazhagi, V.
Flanagan, S. E.
Ellard, Sian
Hattersley, Andrew T.
Ashcroft, F. M.

July 2016

The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell meta...

Psychiatric morbidity in children with KCNJ11 neonatal diabetes.

Broadbridge, E.
Knight, Bridget A.
Pettit, L.
Flanagan, Sarah
Reville, M-C
Tonks, J.
Shepherd, Maggie
Ford, T J
Hattersley, Andrew T.
Bowman, Pamela

April 2016

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause...

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Gloyn, Anna L.
Pearson, Ewan R.
Antcliff, Jennifer F.
Proks, Peter
Bruining, Jan
Slingerland, Annabelle S.
Howard, Neville
Srinivasan, Shubha
Silva, José M.C.L.
Molnes, Janne
Edghill, Emma L.
Frayling, Timothy M.
Temple, I. Karen
Mackay, Deborah
Shield, Julain P.H.
Sumnik, Zdenek
Van Rhijn, Adrian
Wales, J.erry K.H.
Clark, Penelope
Gorman, Shaun
Aisenberg, Javier
Ellard, Sian
Njolstad, Pal R.
Ashcroft, Frances M.
Hattersley, Andrew T.

April 2004

Background Patients with permanent neonatal diabetes usually present within the first three months o...

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

Edghill, EL
Gloyn, AL
Gillespie, KM
Lambert, AP
Raymond, NT
Swift, PG
Ellard, S
Gale, EA
Hattersley, AT

November 2004

We have recently shown that permanent neonatal diabetes can be caused by activating mutations in KCN...

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn, A
Reimann, F
Girard, C
Edghill, E
Proks, P
Pearson, E
Temple, I
Mackay, D
Shield, J
Freedenberg, D
Noyes, K
Ellard, S
Ashcroft, F
Gribble, F
Hattersley, A

January 2005

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenot...

Cognitive, neurological and behavioral features in adults with KCNJ11 neonatal diabetes

Shepherd, Maggie
Hattersley, Andrew T.
Zeman, Adam

February 2019

Central nervous system (CNS) features in children with permanent neonatal diabetes (PNDM) due to KCN...

Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes

Bowman, P
Day, J
Torrens, L
Shepherd, MH
Knight, BA
Ford, TJ
Flanagan, SE
Chakera, A
Hattersley, AT
Zeman, A

January 2019

This is the author accepted manuscript. The final version is available from American Diabetes Associ...

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Gloyn, A
Pearson, E
Antcliff, J
Proks, P
Bruining, G
Slingerland, A
Howard, N
Srinivasan, S
Silva, J
Molnes, J
Edghill, E
Frayling, T
Temple, I
Mackay, D
Shield, J
Sumnik, Z
van Rhijn, A
Wales, J
Clark, P
Gorman, S
Aisenberg, J
Ellard, S
Njølstad, P
Ashcroft, F
Hattersley, A

January 2004

BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months ...

KCNJ11 mutations cause sever neuropsychological deficits

Abstract

Extracted data

KCNJ11 mutations cause sever neuropsychological deficits

Abstract

Extracted data

Related items

Related items