One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification

doi:10.19538/j.ek2020070618

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One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification

Online:2020-07-06 Published:2020-07-14

PCDH12基因突变相关癫痫伴严重发育迟缓小头畸形颅内钙化1例报告

1.南方医科大学深圳医院儿科，广东深圳 518110；2.安阳市妇幼保健院安阳市儿童医院儿内科，河南安阳 455000；3.华中科技大学同济医学院附属武汉儿童医院神经内科，湖北武汉 430016； 4.中国医科大学附属盛京医院小儿神经内科，辽宁沈阳 110004

Abstract

Key words: epilepsy；PCDH12 , gene；mutation

关键词: 癫痫, PCDH12基因, 突变

WANG Long-fei，HU Chun-hui，WANG Hua. One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification[J]. CJPP, DOI: 10.19538/j.ek2020070618.

王龙飞1，2，胡春辉3，王　华4. PCDH12基因突变相关癫痫伴严重发育迟缓小头畸形颅内钙化1例报告[J]. 中国实用儿科杂志, DOI: 10.19538/j.ek2020070618.

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One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification

PCDH12基因突变相关癫痫伴严重发育迟缓小头畸形颅内钙化1例报告

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One case report of PCDH12 gene mutation-related epilepsy combined with severe development retardation，microcephalia and intracranial calcification

PCDH12基因突变相关癫痫伴严重发育迟缓 小头畸形 颅内钙化1例报告

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Cite this article

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PCDH12基因突变相关癫痫伴严重发育迟缓小头畸形颅内钙化1例报告