Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13353-014-0243-8.pdf
Reference32 articles.
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3. Depienne C, LeGuern E (2012) PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Hum Mutat 33(4):627–634
4. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E (2009) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5(2):e1000381
5. Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E (2011) Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 32(1):E1959–E1975
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