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Items: 13

1.

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ.

Neurology. 2008 Jun 10;70(24):2343-4. doi: 10.1212/01.wnl.0000314731.65875.5c. No abstract available.

PMID:
18541889
2.

A life without pain? Hedonists take note.

Young FB.

Clin Genet. 2008 Jan;73(1):31-3. Epub 2007 Dec 6. Review. No abstract available.

PMID:
18070140
3.

Developments in autonomic research: a review of the latest literature.

Macefield VG.

Clin Auton Res. 2009 Aug;19(4):193-6. doi: 10.1007/s10286-009-0024-3. Review.

PMID:
19593630
4.

[Congenital analgesia: a case report and literature review].

Shen HX, Zhou JF, Chai JN.

Zhongguo Dang Dai Er Ke Za Zhi. 2009 Mar;11(3):197-8. Review. Chinese. No abstract available.

PMID:
19292958
5.

When adaptive processes go awry: gain-of-function in SCN9A.

Young FB.

Clin Genet. 2008 Jan;73(1):34-6. Epub 2007 Dec 6. Review. No abstract available.

PMID:
18070139
6.

[Congenital analgesia (CA)].

Boltshauser E, Isler W.

Ther Umsch. 1983 Aug;40(8):725-7. Review. German. No abstract available.

PMID:
6195750
7.

Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.

Dib-Hajj SD, Yang Y, Waxman SG.

Adv Genet. 2008;63:85-110. doi: 10.1016/S0065-2660(08)01004-3. Review.

PMID:
19185186
8.

[Congenital insensitivity to pain].

Danziger N, Willer JC.

Rev Neurol (Paris). 2009 Feb;165(2):129-36. doi: 10.1016/j.neurol.2008.05.003. Epub 2008 Jul 9. Review. French.

PMID:
18808773
9.

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.

Stafstrom CE.

J Child Neurol. 2009 Aug;24(8 Suppl):15S-23S. doi: 10.1177/0883073809338152. Review.

PMID:
19666879
10.

Congenital insensitivity to pain: an update.

Nagasako EM, Oaklander AL, Dworkin RH.

Pain. 2003 Feb;101(3):213-9. Review. No abstract available.

PMID:
12583863
11.

[ Metabolic hepatosiderosis].

Deugnier Y, Mendler MH, Turlin B, Guillygomar'ch A, Moirand R.

Gastroenterol Clin Biol. 2000 May;24(5 Pt 2):B79-81. Review. French. No abstract available.

12.

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Scheffer IE, Zhang YH, Jansen FE, Dibbens L.

Brain Dev. 2009 May;31(5):394-400. doi: 10.1016/j.braindev.2009.01.001. Epub 2009 Feb 8. Review.

PMID:
19203856
13.

[A case report of congenital indifference to pain].

Marrak H, Souissi R, Kharfi M, Belkheria S.

Tunis Med. 1993 Mar;71(3):171-5. Review. French. No abstract available.

PMID:
7688915

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