Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Abstract Background Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intelle...

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Bibliographic Details
Main Authors: Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan, Syuan-Yu Hong
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Neurology
Subjects:
Epileptic spasms
PPP1CB
Noonan syndrome-like disorder with loose anagen hair-2
NSLH2
Ketogenic diet
KD
Online Access:http://link.springer.com/article/10.1186/s12883-018-1157-6

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http://link.springer.com/article/10.1186/s12883-018-1157-6

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