What causes epileptic encephalopathy in infancy? The answer may lie in our genes

被引：21

作者：

Holland, Katherine D. ^{[1
]}

Hallinan, Barbara E. ^{[1
]}

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Div Neurol, Cincinnati, OH 45229 USA

来源：

NEUROLOGY | 2010年 / 75卷 / 13期

关键词：

CDKL5; MUTATIONS; INFANTILE SPASMS; EPILEPSIES; GENETICS;

D O I：

10.1212/WNL.0b013e3181f6bc97

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

引用

页码：1132 / 1133

页数：2

共 11 条

[1]

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients [J].

Archer, H. L. ;

Evans, J. ;

Edwards, S. ;

Colley, J. ;

Newbury-Ecob, R. ;

O'Callaghan, F. ;

Huyton, M. ;

O'Regan, M. ;

Tolmie, J. ;

Sampson, J. ;

Clarke, A. ;

Osborne, J. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (09) :729-734

[2]

Key clinical features to identify girls with CDKL5 mutations [J].

Bahi-Buisson, Nadia ;

Nectoux, Juliette ;

Rosas-Vargas, Haydee ;

Milh, Mathieu ;

Boddaert, Nathalie ;

Girard, Benoit ;

Cances, Claude ;

Ville, Dorothee ;

Afenjar, Alexandra ;

Rio, Marlene ;

Heron, Delphine ;

Morel, Marie Ange N'Guyen ;

Arzimanoglou, Alexis ;

Philippe, Christophe ;

Jonveaux, Philippe ;

Chelly, Jamel ;

Bienvenu, Thierry .

BRAIN, 2008, 131 :2647-2661

[3]

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females [J].

Depienne, Christel ;

Bouteiller, Delphine ;

Keren, Boris ;

Cheuret, Emmanuel ;

Poirier, Karine ;

Trouillard, Oriane ;

Benyahia, Baya ;

Quelin, Chloe ;

Carpentier, Wassila ;

Julia, Sophie ;

Afenjar, Alexandra ;

Gautier, Agnes ;

Rivier, Francois ;

Meyer, Sophie ;

Berquin, Patrick ;

Helias, Marie ;

Py, Isabelle ;

Rivera, Serge ;

Bahi-Buisson, Nadia ;

Gourfinkel-An, Isabelle ;

Cazeneuve, Cecile ;

Ruberg, Merle ;

Brice, Alexis ;

Nabbout, Rima ;

LeGuern, Eric .

PLOS GENETICS, 2009, 5 (02)

[4]

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations [J].

Deprez, L. ;

Weckhuysen, S. ;

Holmgren, P. ;

Suls, A. ;

Van Dyck, T. ;

Goossens, D. ;

Del-Favero, J. ;

Jansen, A. ;

Verhaert, K. ;

Lagae, L. ;

Jordanova, A. ;

Van Coster, R. ;

Yendle, S. ;

Berkovic, S. F. ;

Scheffer, I. ;

Ceulemans, B. ;

De Jonghe, P. .

NEUROLOGY, 2010, 75 (13) :1159-1165

[5]

Genetics of epilepsy syndromes starting in the first year of life [J].

Deprez, Liesbet ;

Jansen, An ;

De Jonghe, Peter .

NEUROLOGY, 2009, 72 (03) :273-281

[6]

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy [J].

Elia, M. ;

Falco, M. ;

Ferri, R. ;

Spalletta, A. ;

Bottitta, M. ;

Calabrese, G. ;

Carotenuto, M. ;

Musumeci, S. A. ;

Lo Giudice, M. ;

Fichera, M. .

NEUROLOGY, 2008, 71 (13) :997-999

[7]

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus [J].

Guerrini, R. ;

Moro, F. ;

Kato, M. ;

Barkovich, A. J. ;

Shiihara, T. ;

McShane, M. A. ;

Hurst, J. ;

Loi, M. ;

Tohyama, J. ;

Norci, V. ;

Hayasaka, K. ;

Kang, U. J. ;

Das, S. ;

Dobyns, W. B. .

NEUROLOGY, 2007, 69 (05) :427-433

[8]

The spectrum of SCNIA-related infantile epileptic encephalopathies [J].

Harkin, Louise A. ;

McMahon, Jacinta M. ;

Iona, Xenia ;

Dibbens, Leanne ;

Pelekanos, James T. ;

Zuberi, Sameer M. ;

Sadleir, Lynette G. ;

Andermann, Eva ;

Gill, Deepak ;

Farrell, Kevin ;

Connolly, Mary ;

Stanley, Thorsten ;

Harbord, Michael ;

Andermann, Frederick ;

Wang, Jing ;

Batish, Sat Dev ;

Jones, Jeffrey G. ;

Seltzer, William K. ;

Gardner, Alison ;

Sutherland, Grant ;

Berkovic, Samuel F. ;

Mulley, John C. ;

Scheffer, Ingrid E. .

BRAIN, 2007, 130 :843-852

[9]

Genetic testing in the epilepsies-Report of the ILAE Genetics Commission [J].

Ottman, Ruth ;

Hirose, Shinichi ;

Jain, Satish ;

Lerche, Holger ;

Lopes-Cendes, Iscia ;

Noebels, Jeffrey L. ;

Serratosa, Jose ;

Zara, Federico ;

Scheffer, Ingrid E. .

EPILEPSIA, 2010, 51 (04) :655-670

[10]

New treatment paradigms in neonatal metabolic epilepsies [J].

Pearl, P. L. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2009, 32 (02) :204-213

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