KCNQ2 Encephalopathy: Emerging Phenotype of a Neonatal Epileptic Encephalopathy

Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S1, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P.

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1Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.

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Extending the KCNQ2 Encephalopathy Spectrum: Clinical and Neuroimaging Findings in 17 Patients

Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
Weckhuysen S1, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group.

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1From the Neurogenetics Group (S.W., R.H., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., R.H., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Department of Paediatrics (V.I.), University Hospital Centre Zagreb, Croatia; Division of Pediatric Neurology and Metabolism (R.V.C.), Department of Pediatrics, University Hospital Ghent, Belgium; Danish Epilepsy Centre (H.H., R.S.M.), Dianalund; Institute for Regional Health Research (H.H.), University of Southern Denmark, Odense; Department of Child Neurology (S.G.), Juliane Marie Center, Rigshospital, Copenhagen, Denmark; Pediatric Neurology (A.-S.S., B.C.), Department of Neurology (A.-S.S., B.C., P.D.J.), Antwerp University Hospital, Antwerp University, Antwerp, Belgium; Epilepsy Research Centre (S.B.H., S.M., I.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Great Ormond Street Hospital (C.E.), London; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Child Neurology and Neurorehabilitation Unit (G.C., M.A.), Department of Pediatrics, Central Hospital of Bolzano; Neurology Unit and laboratories (T.P., R.G., C.M.), A. Meyer Children’s Hospital, Florence; Child Neuropsychiatry Unit (L.G.), Spedali Civili, Brescia, Italy; Pädiatrie I (K.R., E.H.), Division of Pediatric Neurology, University Hospital Innsbruck, Austria; University Hospital Essen (B.A.), University Duisburg-Essen; Department of Paediatric Neurology and Developmental Medicine (A.B.), University Children’s Hospital Tübingen, Eberhard Karls University of Tübingen; Center for Child Neurology (I.B.), Sana Krankenhaus Gerresheim, Düsseldorf; Department of Neuropediatrics (S.S.), Hospital for Children and Adolescents, University of Leipzig, Germany; Department of Neurology (B.S., A.P.), Boston Children’s Hospital, Harvard School of Medicine; Department of Biology (B.S.), Brandeis U

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Dominate-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Orhan G1, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S.

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1Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.
KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
Numis AL1, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, Cilio MR.

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1From the University of California (A.L.N., J.E.S., M.R.C.), San Francisco; Central Hospital of Bolzano (M.A.), Italy; Kaiser Permanente of Northern California (A.J.L.); University of Genoa (P.S.), “G. Gaslini” Institute, Italy; and Paris-Descartes University, Hôpital Necker-Enfants Malades (R.N.), Paris, France.

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Early onset epileptic encephalopathy caused by gain of function mutations in the voltage sensor of KV7.2 and KV7.3 potassium channel- subunits

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
Miceli F1, Soldovieri MV2, Ambrosino P2, De Maria M2, Migliore M3, Migliore R3, Taglialatela M4.

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From the University of California (A.L.N., J.E.S., M.R.C.), San Francisco; Central Hospital of Bolzano (M.A.), Italy; Kaiser Permanente of Northern California (A.J.L.); University of Genoa (P.S.), “G. Gaslini” Institute, Italy; and Paris-Descartes University, Hôpital Necker-Enfants Malades (R.N.), Paris, France.

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Early and effective treatment of KCNQ2 encephalopathy

Epilepsia. 2015 May;56(5):685-91. doi: 10.1111/epi.12984. Epub 2015 Apr 16.
Early and effective treatment of KCNQ2 encephalopathy.
Pisano T1, Numis AL2, Heavin SB3, Weckhuysen S4,5, Angriman M6, Suls A4,5, Podesta B7,
Thibert RL8, Shapiro KA2, Guerrini R1,9, Scheffer IE3, Marini C1, Cilio MR2,10.

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1Neurology Unit and Laboratories, A. Meyer Children’s Hospital, Florence, Italy.
2Department of Neurology, University of California, San Francisco, San Francisco, California, U.S.A.
3Departments of Medicine and Paediatrics, Florey Institute, Austin Health and Royal Children’s Hospital, University of Melbourne, Melbourne, Victoria, Australia.
4Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
5Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
6Central Hospital of Bolzano, Bolzano, Italy.
7Child Neurology and Psychiatry Unit, S. Croce and S. Carlo Hospital, Cuneo, Italy.
8Pediatric Epilepsy Program, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, U.S.A.
9University of Florence, Florence, Italy.
10Department of Pediatrics, University of California San Francisco, San Francisco, California, U.S.A.

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