Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis (Q27003101)

author name string

Nneamaka B. Agochukwu

series ordinal

1

1 reference

Benjamin D. Solomon

series ordinal

2

1 reference

Andrea L. Gropman

series ordinal

3

1 reference

language of work or name

1 reference

November 2012

1 reference

1 reference

47

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issue

5

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page(s)

355-61

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Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

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A Korean family with the Muenke syndrome

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

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Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy

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Additional phenotypic features of Muenke syndrome in 2 Dutch families.

28 November 2018

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Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

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Significant phenotypic variability of Muenke syndrome in identical twins.

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Prognosis of patients with seizures occurring in the first 2 years.

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Sudden infant death in a patient with FGFR3 P250R mutation

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Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

28 November 2018

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Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study

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Infantile spasms in a patient with williams syndrome and craniosynostosis.

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28 November 2018

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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

28 November 2018

1 reference

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Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

28 November 2018

1 reference

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Perinatal hypoxia and subsequent development of seizures

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23044018

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

1 reference

https://pubmed.ncbi.nlm.nih.gov/23044018

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.PEDIATRNEUROL.2012.07.004

0 references

1 reference

PubMed publication ID

23044018

1 reference