Infantile spasms associated with 5q14.3 deletion.

Ahmad Marashly; Rosario Maria S. Riel-Romero; Susonne Ursin; Hani Ghawi

Infantile spasms associated with 5q14.3 deletion.

Ahmad Marashly, Rosario Maria S. Riel-Romero, Susonne Ursin, Hani Ghawi

Research output: Contribution to journal › Article › peer-review

Abstract

West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.

Original language	English (US)
Pages (from-to)	223-226
Number of pages	4
Journal	The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society
Volume	162
Issue number	4
State	Published - Jul 2010
Externally published	Yes

ASJC Scopus subject areas

General Medicine

Cite this

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title = "Infantile spasms associated with 5q14.3 deletion.",

abstract = "West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.",

author = "Ahmad Marashly and Riel-Romero, {Rosario Maria S.} and Susonne Ursin and Hani Ghawi",

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AU - Marashly, Ahmad

AU - Riel-Romero, Rosario Maria S.

AU - Ursin, Susonne

AU - Ghawi, Hani

PY - 2010/7

Y1 - 2010/7

N2 - West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.

AB - West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.

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ER -

Infantile spasms associated with 5q14.3 deletion.

Abstract

ASJC Scopus subject areas

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