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Items: 1 to 20 of 966

1.

Epilepsy and mental retardation limited to females: an under-recognized disorder.

Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF.

Brain. 2008 Apr;131(Pt 4):918-27. doi: 10.1093/brain/awm338. Epub 2008 Jan 29.

PMID:
18234694
2.

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM.

Am J Med Genet A. 2010 Oct;152A(10):2475-81. doi: 10.1002/ajmg.a.33611.

PMID:
20830798
3.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE.

J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14.

PMID:
19752159
4.

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.

Hedera P, Alvarado D, Beydoun A, Fink JK.

Ann Neurol. 2002 Jan;51(1):45-50.

5.

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.

Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.

Neurology. 2002 Aug 13;59(3):348-56.

PMID:
12177367
6.
7.

Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.

Lerche H, Weber YG, Baier H, Jurkat-Rott K, Kraus de Camargo O, Ludolph AC, Bode H, Lehmann-Horn F.

Neurology. 2001 Oct 9;57(7):1191-8.

PMID:
11591834
8.

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al.

J Med Genet. 1995 Apr;32(4):257-63.

9.

A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC.

Am J Hum Genet. 2000 Feb;66(2):469-79. Erratum in: Am J Hum Genet 2000 Apr;66(4):1472.

10.

Fragile X syndrome: associated neurological abnormalities and developmental disabilities.

Wisniewski KE, French JH, Fernando S, Brown WT, Jenkins EC, Friedman E, Hill AL, Miezejeski CM.

Ann Neurol. 1985 Dec;18(6):665-9.

PMID:
4083849
11.

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.

Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S.

Nat Genet. 1997 Sep;17(1):92-5.

PMID:
9288105
12.

A form of X-linked mental retardation with marfanoid habitus.

Lujan JE, Carlin ME, Lubs HA.

Am J Med Genet. 1984 Jan;17(1):311-22.

PMID:
6711603
13.

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.

Pediatrics. 2006 Dec;118(6):e1687-95. Epub 2006 Nov 6.

PMID:
17088400
14.

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.

Guo X, Shen H, Xiao X, Dai Q, Li S, Jia X, Hejtmancik JF, Zhang Q.

J Hum Genet. 2006;51(8):695-700. Epub 2006 Jul 11.

PMID:
16832577
16.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J.

Am J Med Genet. 2002 Nov 1;112(4):405-11.

PMID:
12376946
17.

Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis?

Valente KD, Freitas A, Fridman C, Varela M, Silva AE, Fett AC, Koiffmann CP.

Clin Neurophysiol. 2006 Apr;117(4):803-9. Epub 2006 Feb 21.

PMID:
16495142
18.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J.

J Med Genet. 1994 Mar;31(3):177-82.

19.

EEG features and epilepsy in patients with autism.

Rossi PG, Parmeggiani A, Bach V, Santucci M, Visconti P.

Brain Dev. 1995 May-Jun;17(3):169-74.

PMID:
7573755
20.

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

Proud VK, Levine C, Carpenter NJ.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):458-66.

PMID:
1605226

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