New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.

Tang, S; Hughes, E; Lascelles, K; Simpson, M A; Pal, D K

Tang, S; Hughes, E; Lascelles, K; Simpson, M A; Pal, D K.

Affiliation

Tang S; King's College London, London, United Kingdom.
Hughes E; King's Health Partners, London, United Kingdom.
Lascelles K; King's Health Partners, London, United Kingdom.
Pal DK; King's College London, London, United Kingdom.

Am J Med Genet A ; 173(1): 195-199, 2017 Jan.

Article in En | MEDLINE | ID: mdl-27665729

Subject(s)

Epilepsies, Myoclonic/diagnosis; Epilepsies, Myoclonic/genetics; Foot Deformities, Congenital/diagnosis; Foot Deformities, Congenital/genetics; Hypotrichosis/diagnosis; Hypotrichosis/genetics; Intellectual Disability/diagnosis; Intellectual Disability/genetics; Mutation; Transcription Factors/genetics; Alleles; Comparative Genomic Hybridization; DNA Mutational Analysis; Electroencephalography; Exons; Facies; Female; Genotype; Humans; Infant; Magnetic Resonance Imaging; Phenotype

Key words

Nicolaides-Baraitser syndrome; SMARCA2; myoclonic astatic epilepsy

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Full text: 1 Database: MEDLINE Main subject: Transcription Factors / Foot Deformities, Congenital / Epilepsies, Myoclonic / Hypotrichosis / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Infant Language: En Year: 2017 Type: Article

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