Male monozygotic twins discordant for periventricular nodular heterotopia and epilepsy

被引：9

作者：

Sisodiya, SM

Marques, W

Everitt, A

Sander, JWA

机构：

[1] Univ London, Inst Neurol, Dept Clin Neurol, Epilepsy Res Grp, London WC1N 3BG, England

[2] Radcliffe Infirm, Dept Neurol, Oxford OX2 6HE, England

[3] Univ London, Inst Neurol, Dept Clin Neurol, Neurogenet Sect, London WC1N 3BG, England

[4] Natl Soc Epilepsy, Gerrards Cross, England

来源：

EPILEPSIA | 1999年 / 40卷 / 02期

关键词：

twins; periventricular heterotopia; epilepsy;

D O I：

10.1111/j.1528-1157.1999.tb02083.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Purpose: To determine zygosity and study cerebral structure in apparently identical twins with discordant manifestation of focal epilepsy. Methods: Male twins in their fifth decade were scanned by using magnetic resonance imaging (MRI) to detect structural abnormalities. Zygosity was determined by using 10 microsatellite markers, Results: DNA analysis showed that the twins were >99.99% likely to be monozygous; they were discordant for bilateral symmetric periventricular nodular heterotopia (PNH) and epilepsy. Conclusions: The discordant occurrence of PNH and epilepsy in monozygotic male twins carries implications with respect to somatic mosaicism, currently held to be responsible for PNH In affected male subjects.

引用

收藏

页码：248 / 250

页数：3

相关论文

共 15 条

[1]

Boklage C E, 1981, Prog Clin Biol Res, V69A, P155

[2] Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly [J].

Brunelli, S ;

Faiella, A ;

Capra, V ;

Nigro, V ;

Simeone, A ;

Cama, A ;

Boncinelli, E .

NATURE GENETICS, 1996, 12 (01) :94-96

[3] Monozygotic twins discordant for Aicardi syndrome [J].

Costa, T ;

Greer, W ;

Rysiecki, G ;

Buncic, JR ;

Ray, PN .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (08) :688-691

[4]

des Portes V, 1998, CELL, V92, P51

[5] Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome [J].

Dobyns, WB ;

Guerrini, R ;

CzapanskyBeilman, DK ;

Pierpont, MEM ;

Breningstall, G ;

Yock, DH ;

Bonanni, P ;

Truwit, CL .

NEUROLOGY, 1997, 49 (04) :1042-1047

[6] X-linked malformations of neuronal migration [J].

Dobyns, WB ;

Andermann, E ;

Andermann, F ;

CzapanskyBeilman, D ;

Dubeau, F ;

Dulac, O ;

Guerrini, R ;

Hirsch, B ;

Ledbetter, DH ;

Lee, NS ;

Motte, J ;

Pinard, JM ;

Radtke, RA ;

Ross, ME ;

Tampieri, D ;

Walsh, CA ;

Truwit, CL .

NEUROLOGY, 1996, 47 (02) :331-339

[7] Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development [J].

Eksioglu, YZ ;

Scheffer, IE ;

Cardenas, P ;

Knoll, J ;

DiMario, F ;

Ramsby, G ;

Berg, M ;

Kamuro, K ;

Berkovic, SF ;

Duyk, GM ;

Parisi, J ;

Huttenlocher, PR ;

Walsh, CA .

NEURON, 1996, 16 (01) :77-87

[8] Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia [J].

Fink, JM ;

Dobyns, WB ;

Guerrini, R ;

Hirsch, BA .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (02) :379-387

[9] doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein [J].

Gleeson, JG ;

Allen, KM ;

Fox, JW ;

Lamperti, ED ;

Berkovic, S ;

Scheffer, I ;

Cooper, EC ;

Dobyns, WB ;

Minnerath, SR ;

Ross, ME ;

Walsh, CA .

CELL, 1998, 92 (01) :63-72

[10] DISCORDANT OCCURRENCE OF CEREBRAL UNILATERAL HETEROTOPIA AND EPILEPSY IN MONOZYGOTIC TWINS [J].

KUZNIECKY, R ;

GILLIAM, F ;

FAUGHT, E .

EPILEPSIA, 1995, 36 (11) :1155-1157