Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA

2020 ◽  
Author(s):  
Hessa S. Alsaif ◽  
Heba Youssef E. L. Khashab ◽  
Fowzan S. Alkuraya
Keyword(s):  
Epilepsy Syndrome ◽  
Symptomatic Epilepsy

scholarly journals Risk factors influencing the outcomes in infants with epilepsy

2007 ◽  
Vol 47 (5) ◽  
pp. 202 ◽  
Author(s):  
Setyo Handryastuti ◽  
Irawan Mangunatmadja
Keyword(s):  
Risk Factors ◽  
Age Of Onset ◽  
Age At Onset ◽  
Epileptic Seizures ◽  
Neonatal Seizure ◽  
Epilepsy Syndrome ◽  
Developmental Status ◽  
Factors Influencing ◽  
History Of ◽  
Symptomatic Epilepsy

Background Epilepsy in young children should always beconsidered as a symptom of an underlying brain disease. Parentsand caregivers often asked whether the seizures can be controlledand whether the epilepsy will affect the child development.Objective To find out risk factors influencing the outcomes ininfants with epilepsy.Methods This was a retrospective study on infants aged 1 monthuntil 12 months with recurrent epileptic seizures. We looked forthe risk factors as sex, types of medication, age at onset of seizure,epilepsy syndrome, etiology of epilepsy, history of neonatal seizure,first EEG features, and type of seizure for the last 6 month-period.The outcomes evaluated were controlled seizure and developmentalstatus.Results Hundred forty infants with epilepsy were reviewed,consisted of 84 (60%) infants with symptomatic epilepsy, and 56(40%) infants categorized as idiopathic. Forty-six (33%) infantshad controlled seizure, while 94 (67%) infants had uncontrolledseizure. Abnormal developmental status was found in 75 infants(54%). Abnormal developmental status was more found in infantswith polytherapy, age at onset of 1-4 months, symptomaticepilepsy, positive remote symptomatic, history of neonatal seizure,abnormality of first EEG, and uncontrolled seizure. Uncontrolledseizure of epilepsy was more found in infants with polytherapy,early age at onset (1-4 month old), symptomatic epilepsy, positiveremote symptomatic, history of neonatal seizure, and abnormalityof first EEG.Conclusion Our data indicate that classifying syndrome of epilepsythrough diagnostic screening and age of onset are important todetermine the outcomes.

scholarly journals Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

2004 ◽  
Vol 36 (11) ◽  
pp. 1225-1229 ◽  
Author(s):  
Michael A Simpson ◽  
Harold Cross ◽  
Christos Proukakis ◽  
David A Priestman ◽  
David C A Neville ◽  
...  
Keyword(s):  
Epilepsy Syndrome ◽  
Loss Of Function ◽  
Gm3 Synthase ◽  
Symptomatic Epilepsy

Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Mio Aerden ◽  
Lore Vallaeys ◽  
Maureen Holvoet ◽  
Liesbeth De Waele ◽  
Kris Van Den Bogaert ◽  
...  
Keyword(s):  
Epilepsy Syndrome ◽  
Symptomatic Epilepsy

FIRES (febrile infection-related epilepsy syndrome) partially responsive to magnesium and dextromethorphan treatment

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
M Häusler ◽  
M Schoberer ◽  
A van Baalen ◽  
J Weis ◽  
T Orlikowsky ◽  
...  
Keyword(s):  
Epilepsy Syndrome

scholarly journals Febrile infection-related epilepsy syndrome treated with anakinra

2016 ◽  
Vol 80 (6) ◽  
pp. 939-945 ◽  
Author(s):  
Daniel L. Kenney-Jung ◽  
Annamaria Vezzani ◽  
Robert J. Kahoud ◽  
Reghann G. LaFrance-Corey ◽  
Mai-Lan Ho ◽  
...  
Keyword(s):  
Epilepsy Syndrome

scholarly journals How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries

2021 ◽  
pp. 153575972199832
Author(s):  
Karnig Kazazian ◽  
Marissa Kellogg ◽  
Nora Wong ◽  
Krista Eschbach ◽  
Raquel Farias Moeller ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Neurologic Disorder ◽  
Mortality And Morbidity ◽  
Refractory Status ◽  
Rigorous Research ◽  
Active Epilepsy ◽  
New Onset

New-onset refractory status epilepticus (NORSE) is a rare clinical presentation of refractory status epilepticus (RSE) that occurs in people without active epilepsy or preexisting neurologic disorder. Febrile infection-related epilepsy syndrome (FIRES) is a subcategory of NORSE. New-onset refractory status epilepticus/FIRES are becoming increasingly recognized; however, information pertaining to disease course, clinical outcomes, and survivorship remains limited, and mortality and morbidity are variable, but often high. The objective of the NORSE/FIRES Family Registry is to (1) provide an easily accessible and internationally available multilingual registry into which survivors or NORSE/FIRES surrogates or family members of people affected by NORSE/FIRES or their physicians can enter data in a systematic and rigorous research study from anywhere in the world where internet is available; and (2) to examine past medical history, outcomes, and quality of life for people affected by NORSE/FIRES.

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