scholarly journals Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

Epilepsia ◽  
2010 ◽  
Vol 51 (9) ◽  
pp. 1886-1888 ◽  
Author(s):  
Masaru Takayanagi ◽  
Kazuhiro Haginoya ◽  
Naoki Umehara ◽  
Taro Kitamura ◽  
Yurika Numata ◽  
...  
Keyword(s):  
Case Report ◽  
Acute Encephalopathy ◽  
Truncation Mutation ◽  
Scn1a Gene

scholarly journals Mutations of the SCN1A gene in acute encephalopathy

Epilepsia ◽  
2012 ◽  
Vol 53 (3) ◽  
pp. 558-564 ◽  
Author(s):  
Makiko Saitoh ◽  
Mayu Shinohara ◽  
Hideki Hoshino ◽  
Masaya Kubota ◽  
Kaoru Amemiya ◽  
...  
Keyword(s):  
Acute Encephalopathy ◽  
Scn1a Gene

Case report of acute encephalopathy caused by enterohemorrhagic Escherichia coli infection in a 24-year-old woman

2019 ◽  
Vol 59 (5) ◽  
pp. 274-278 ◽  
Author(s):  
Yuya Suzuki ◽  
Takao Fukushima ◽  
Takahiro Iwasawa ◽  
Gen Nakamura ◽  
Shigeki Nanasawa ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Case Report ◽  
Enterohemorrhagic Escherichia Coli ◽  
Acute Encephalopathy ◽  
Escherichia Coli Infection

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys???Drash syndrome

2008 ◽  
Vol 20 (1) ◽  
pp. 103-106 ◽  
Author(s):  
Pei-Wen Chiang ◽  
Sofia Aliaga ◽  
Sharon Travers ◽  
Elaine Spector ◽  
Anne Chun-Hui Tsai
Keyword(s):  
Case Report ◽  
Ambiguous Genitalia ◽  
Truncation Mutation ◽  
Drash Syndrome

Acute encephalopathy as the presenting symptom in Henoch-Schoenlein purpura: A case report

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
E Nüsken ◽  
C Plank ◽  
D Wenzel ◽  
R Trollmann
Keyword(s):  
Case Report ◽  
Acute Encephalopathy

scholarly journals Only a Touch of the Flu? The Simultaneous Manifestation of Acute Necrotizing Encephalopathy in Two Consanguineous Patients

2015 ◽  
Vol 2 (2) ◽  
Author(s):  
C. Bloch ◽  
B. Suter ◽  
A. Fischmann ◽  
H. Gensicke ◽  
S. Rüegg ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Treatment Strategies ◽  
Influenza B ◽  
Acute Encephalopathy ◽  
Acute Necrotizing Encephalopathy ◽  
Acute Necrotizing

Abstract This case report describes the simultaneous manifestation of acute necrotizing encephalopathy in 2 consanguineous patients after infection with influenza B based on the autosomal dominant missense mutation of the RANBP2-gene. Differential diagnosis of acute encephalopathy, clinical and radiological clues, and treatment strategies are outlined.

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