Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM
Am J Hum Genet 2012 Oct 5;91(4):729-36. Epub 2012 Sep 27 doi: 10.1016/j.ajhg.2012.08.019. PMID: 23022099 Free PMC Article

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U
Nat Clin Pract Neurol 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148. PMID: 16932552

Declining diagnosis of birth asphyxia in California: 1991-2000.

Wu YW, Backstrand KH, Zhao S, Fullerton HJ, Johnston SC
Pediatrics 2004 Dec;114(6):1584-90. doi: 10.1542/peds.2004-0708. PMID: 15574618

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.

Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ
Neuropediatrics 1989 Feb;20(1):12-9. doi: 10.1055/s-2008-1071258. PMID: 2654691

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Diagnosis

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S
Eur J Med Genet 2020 Nov;63(11):104033. Epub 2020 Aug 8 doi: 10.1016/j.ejmg.2020.104033. PMID: 32781272

Severity of disability in patients with cerebral palsy secondary to symptomatic congenital cytomegalovirus encephalopathy.

Cameron NA, Gormley ME Jr, Deshpande S
J Pediatr Rehabil Med 2013 Jan 1;6(4):239-42. doi: 10.3233/PRM-140258. PMID: 24705659

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T
Neurogenetics 2011 Feb;12(1):1-8. Epub 2010 Aug 24 doi: 10.1007/s10048-010-0255-4. PMID: 20734096

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Schüle B, Armstrong DD, Vogel H, Oviedo A, Francke U
Clin Genet 2008 Aug;74(2):116-26. Epub 2008 May 8 doi: 10.1111/j.1399-0004.2008.01005.x. PMID: 18477000

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U
Nat Clin Pract Neurol 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148. PMID: 16932552

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Therapy

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U
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L-5-hydroxytryptophan in treatment of several different syndromes in which myoclonus is prominent.

Growdon JH, Young RR, Shahani BT
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Prognosis

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U
Nat Clin Pract Neurol 2006 Apr;2(4):212-21. doi: 10.1038/ncpneuro0148. PMID: 16932552

Declining diagnosis of birth asphyxia in California: 1991-2000.

Wu YW, Backstrand KH, Zhao S, Fullerton HJ, Johnston SC
Pediatrics 2004 Dec;114(6):1584-90. doi: 10.1542/peds.2004-0708. PMID: 15574618

Familial systemic lupus erythematosus and congenital infection-like syndrome.

Dale RC, Tang SP, Heckmatt JZ, Tatnall FM
Neuropediatrics 2000 Jun;31(3):155-8. doi: 10.1055/s-2000-7492. PMID: 10963105

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.

Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ
Neuropediatrics 1989 Feb;20(1):12-9. doi: 10.1055/s-2008-1071258. PMID: 2654691

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