William Dobyns to Spasms, Infantile
This is a "connection" page, showing publications William Dobyns has written about Spasms, Infantile.
Connection Strength
2.149
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Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011 Dec; 45(6):355-67.
Score: 0.410
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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet. 2011 Dec; 19(12):1238-45.
Score: 0.398
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31; 69(5):427-33.
Score: 0.304
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X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J Child Neurol. 2005 Apr; 20(4):392-7.
Score: 0.259
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Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003 Jul 22; 61(2):267-76.
Score: 0.230
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Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One. 2018; 13(3):e0193599.
Score: 0.158
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De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 02; 96(4):682-90.
Score: 0.129
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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93.
Score: 0.116
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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. Am J Med Genet A. 2010 Aug; 152A(8):2079-84.
Score: 0.094
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Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90.
Score: 0.029
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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain. 2009 Jun; 132(Pt 6):1563-76.
Score: 0.021