Early progressive encephalopathy in boys and MECP2 mutations

P. Kankirawatana; H. Leonard; C. Ellaway; J. Scurlock; A. Mansour; C. M. Makris; L. S. Dure IV; M. Friez; J. Lane; C. Kiraly-Borri; V. Fabian; M. Davis; J. Jackson; J. Christodoulou; W. E. Kaufmann; D. Ravine; A. K. Percy

doi:10.1212/01.wnl.0000223318.28938.45

Early progressive encephalopathy in boys and MECP2 mutations

P. Kankirawatana, H. Leonard, C. Ellaway, J. Scurlock, A. Mansour, C. M. Makris, L. S. Dure IV, M. Friez, J. Lane, C. Kiraly-Borri, V. Fabian, M. Davis, J. Jackson, J. Christodoulou, W. E. Kaufmann, D. Ravine, A. K. Percy

Research output: Contribution to journal › Article › peer-review

69 Scopus citations

Abstract

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.

Original language	English (US)
Pages (from-to)	164-166
Number of pages	3
Journal	Neurology
Volume	67
Issue number	1
DOIs	https://doi.org/10.1212/01.wnl.0000223318.28938.45
State	Published - Jul 2006
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

Access to Document

10.1212/01.wnl.0000223318.28938.45

Cite this

Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C. M., Dure IV, L. S., Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W. E., Ravine, D., & Percy, A. K. (2006). Early progressive encephalopathy in boys and MECP2 mutations. Neurology, 67(1), 164-166. https://doi.org/10.1212/01.wnl.0000223318.28938.45

Kankirawatana, P, Leonard, H, Ellaway, C, Scurlock, J, Mansour, A, Makris, CM, Dure IV, LS, Friez, M, Lane, J, Kiraly-Borri, C, Fabian, V, Davis, M, Jackson, J, Christodoulou, J, Kaufmann, WE, Ravine, D & Percy, AK 2006, 'Early progressive encephalopathy in boys and MECP2 mutations', Neurology, vol. 67, no. 1, pp. 164-166. https://doi.org/10.1212/01.wnl.0000223318.28938.45

@article{de71180f8f034bd5b7ec1d67f122e0aa,

title = "Early progressive encephalopathy in boys and MECP2 mutations",

abstract = "MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.",

author = "P. Kankirawatana and H. Leonard and C. Ellaway and J. Scurlock and A. Mansour and Makris, {C. M.} and {Dure IV}, {L. S.} and M. Friez and J. Lane and C. Kiraly-Borri and V. Fabian and M. Davis and J. Jackson and J. Christodoulou and Kaufmann, {W. E.} and D. Ravine and Percy, {A. K.}",

year = "2006",

month = jul,

doi = "10.1212/01.wnl.0000223318.28938.45",

language = "English (US)",

volume = "67",

pages = "164--166",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "1",

}

TY - JOUR

T1 - Early progressive encephalopathy in boys and MECP2 mutations

AU - Kankirawatana, P.

AU - Leonard, H.

AU - Ellaway, C.

AU - Scurlock, J.

AU - Mansour, A.

AU - Makris, C. M.

AU - Dure IV, L. S.

AU - Friez, M.

AU - Lane, J.

AU - Kiraly-Borri, C.

AU - Fabian, V.

AU - Davis, M.

AU - Jackson, J.

AU - Christodoulou, J.

AU - Kaufmann, W. E.

AU - Ravine, D.

AU - Percy, A. K.

PY - 2006/7

Y1 - 2006/7

N2 - MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.

AB - MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.

UR - http://www.scopus.com/inward/record.url?scp=33746861632&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33746861632&partnerID=8YFLogxK

U2 - 10.1212/01.wnl.0000223318.28938.45

DO - 10.1212/01.wnl.0000223318.28938.45

M3 - Article

C2 - 16832102

AN - SCOPUS:33746861632

SN - 0028-3878

VL - 67

SP - 164

EP - 166

JO - Neurology

JF - Neurology

IS - 1

ER -

Early progressive encephalopathy in boys and MECP2 mutations

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this