Summary Deletions in the 9q33‐q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33‐q34.12 microdeletion of 4 Mb in a 15‐month‐old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes STXBP1 , SPTAN1 , ENG and TOR1A . We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.

Francesco Nicita

Fiorenza Ulgiati

Laura Bernardini

Giacomo Garone

Laura Papetti

Antonio Novelli

Alberto Spalice

Annals of Human Genetics

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The Annals of Human Genetics publishes research materials directly related to human genetics and the application of scientific principles and techniques in any aspect of human genetics. We also welcome papers describing work related to other species that may be relevant to human genetics. All mathematical models should include examples of data applications whenever possible. Authors are encouraged to submit supporting information, such as datasets or other graphics and tables, which will not be published in the print version of the journal but will be made available in the online version and stored on our website.

《Annals of Human Genetics》期刊出版与人类遗传学及其在各个领域的应用相关的研究材料。我们也欢迎与其他物种相关的研究论文，这些研究可能对人类遗传学有启发。所有数学模型应尽量包含数据应用的实例。我们鼓励作者提交支持性信息，例如数据集、图形或表格，这些信息将不会在期刊的印刷版中发布，但会在在线版本中提供，并存储在我们的网站上。

Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing <i>STXBP1</i> and <i>SPTAN1</i>

A deletion of 4 Mb is reported in a 15‐month‐old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy, including the four autosomal dominant genes STXBP1, SPTAN1, ENG and TOR1A.

Category	Quartile
生物学	4
生物学, 遗传学	4

Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing STXBP1 and SPTAN1

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Journal Info

Category	Quartile
GENETICS & HEREDITY	4