scholarly journals De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

Seizure ◽  
2019 ◽  
Vol 73 ◽  
pp. 79-82
Author(s):  
C. Pepi ◽  
E. Cesaroni ◽  
P. Striano ◽  
D. Maiorani ◽  
D. Pruna ◽  
...  
2018 ◽  
Vol 20 (6) ◽  
pp. 502-507 ◽  
Author(s):  
Roberto H. Caraballo ◽  
Santiago Chacón ◽  
Lorena Fasulo ◽  
Claudio Bedoya

Epilepsia ◽  
1993 ◽  
Vol 34 (2) ◽  
pp. 355-358 ◽  
Author(s):  
Pierre Thomas ◽  
Christine Lebrun ◽  
Marcel Chatel

Neurology ◽  
2016 ◽  
Vol 86 (17) ◽  
pp. e186-e186
Author(s):  
Proleta Datta ◽  
Omotola Hope ◽  
Giridhar P. Kalamangalam

2018 ◽  
Vol 20 (1) ◽  
pp. 73-76 ◽  
Author(s):  
José L Fernández-Torre ◽  
Alicia Paramio-Paz ◽  
Anjana López-Delgado ◽  
María Martín-García ◽  
Isabel González-Aramburu ◽  
...  

Seizure ◽  
1999 ◽  
Vol 8 (6) ◽  
pp. 364-366 ◽  
Author(s):  
Kousuke Kanemoto ◽  
Toshio Miyamoto ◽  
Ryuji Abe

2020 ◽  
Vol 13 (11) ◽  
pp. e238172 ◽  
Author(s):  
Christopher Kwan ◽  
Aaron Sia ◽  
Cullen O'Gorman

We present a case study of a 67-year-old man who presented with a new onset of recurrent tonic-clonic seizures. He had tested positive to gamma-aminobutyric acid B receptor antibodies in his blood and cerebrospinal fluid, and subsequent CT imaging and transrectal biopsy confirmed the presence of a locally advanced mixed small cell and Gleason 9 adenocarcinoma of the prostate. His seizures remained resistant to treatment with multiple antiepileptic drugs, including sodium valproate, clobazam, topiramate, carbamazepine, phenytoin and lacosamide. He progressed to status epilepticus, which required intravenous immunoglobulin and steroids, followed by plasma exchange 1 week later. The status epilepticus was refractory and required multiple admissions to the intensive care unit.


2019 ◽  
Vol 50 (03) ◽  
pp. 197-201
Author(s):  
S. Schmid ◽  
M. Wagner ◽  
C. Goetz ◽  
C. Makowski ◽  
P. Freisinger ◽  
...  

AbstractMitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.


2020 ◽  
pp. 100413
Author(s):  
G. Giovannini ◽  
G. Turchi ◽  
M. Mazzoli ◽  
A.E. Vaudano ◽  
S. Meletti

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