EPILEPSY Genetics of early-onset epilepsy with encephalopathy

被引：15

作者：

Nabbout, Rima ^{[1
]}

Dulac, Olivier ^{[1
]}

机构：

[1] Univ Paris 05, Hop Necker, INSERM,U663, Dept Neuropediat,Ctr Reference Epilepsies Rares, F-75015 Paris, France

来源：

NATURE REVIEWS NEUROLOGY | 2012年 / 8卷 / 03期

关键词：

MUTATIONS; BRAIN;

D O I：

10.1038/nrneurol.2012.12

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

引用

页码：129 / 130

页数：3

共 10 条

[1] A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation [J].

Borgatti, R ;

Zucca, C ;

Cavallini, A ;

Ferrario, M ;

Panzeri, C ;

Castaldo, P ;

Soldovieri, MV ;

Baschirotto, C ;

Bresolin, N ;

Dalla Bernardina, B ;

Taglialatela, M ;

Bassi, MT .

NEUROLOGY, 2004, 63 (01) :57-65

[2] 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)

[3] Effects of oxytocin on GABA signalling in the foetal brain during delivery [J].

Khazipov, Rustem ;

Tyzio, Roman ;

Ben-Ari, Yehezkel .

ADVANCES IN VASOPRESSIN AND OXYTOCIN: FROM GENES TO BEHAVIOUR TO DISEASE, 2008, 170 :243-257

[4] Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy [J].

Marini, Carla ;

Mei, Davide ;

Cross, J. Helen ;

Guerrini, Renzo .

EPILEPSIA, 2006, 47 (10) :1737-1740

[5]

Mefford HC., Ann Neurol

[6] Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations [J].

Milh, Mathieu ;

Villeneuve, Nathalie ;

Chouchane, Mondher ;

Kaminska, Anna ;

Laroche, Cecile ;

Barthez, Marie Anne ;

Gitiaux, Cyril ;

Bartoli, Celine ;

Borges-Correia, Ana ;

Cacciagli, Pierre ;

Mignon-Ravix, Cecile ;

Cuberos, Helene ;

Chabrol, Brigitte ;

Villard, Laurent .

EPILEPSIA, 2011, 52 (10) :1828-1834

[7] Transient Brain Magnetic Resonance Imaging Hyperintensity in Basal Ganglia and Brain Stem of Epileptic Infants Treated With Vigabatrin [J].

Milh, Mathieu ;

Villeneuve, Nathalic ;

Chapon, Frederique ;

Pineau, Sandrine ;

Lamoureux, Sylvie ;

Livet, Marie-Odile ;

Bartoli, Celine ;

Hugonenq, Catherine ;

Mancini, Josette ;

Chabrol, Brigitte ;

Girard, Nadine .

JOURNAL OF CHILD NEUROLOGY, 2009, 24 (03) :305-315

[8] De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy [J].

Saitsu, Hirotomo ;

Kato, Mitsuhiro ;

Mizuguchi, Takeshi ;

Hamada, Keisuke ;

Osaka, Hitoshi ;

Tohyama, Jun ;

Uruno, Katsuhisa ;

Kumada, Satoko ;

Nishiyama, Kiyomi ;

Nishimura, Akira ;

Okada, Ippei ;

Yoshimura, Yukiko ;

Hirai, Syu-ichi ;

Kumada, Tatsuro ;

Hayasaka, Kiyoshi ;

Fukuda, Atsuo ;

Ogata, Kazuhiro ;

Matsumoto, Naomichi .

NATURE GENETICS, 2008, 40 (06) :782-788

[9] Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS [J].

Scheffer, Ingrid E. .

NEUROLOGY, 2011, 76 (07) :588-589

[10]

Weckhuysen S., ANN NEUROL

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