Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

2016 ◽  
Vol 58 (10) ◽  
pp. 1085-1091 ◽  
Author(s):  
Carmen Barba ◽  
Francesca Darra ◽  
Raffaella Cusmai ◽  
Elena Procopio ◽  
Carlo Dionisi Vici ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Partial Seizures ◽  
Migrating Partial Seizures

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG)

2017 ◽  
Vol 39 (4) ◽  
pp. 366-367 ◽  
Author(s):  
Agata Fiumara ◽  
Rita Barone ◽  
Giuliana Del Campo ◽  
Pasquale Striano ◽  
Jaak Jaeken
Keyword(s):  
Early Onset ◽  
Epileptic Encephalopathy ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

scholarly journals P.036 Targeted molecular therapy with quinidine for seizures in a neonate with KCNT1 mutation leads to poor response

2017 ◽  
Vol 44 (S2) ◽  
pp. S22-S23
Author(s):  
JM Smith ◽  
M Patel ◽  
Q Xu ◽  
S Uliel-Sibony ◽  
M Demos ◽  
...  
Keyword(s):  
Poor Response ◽  
Epileptic Encephalopathy ◽  
Molecular Therapy ◽  
K Channel ◽  
Eeg Monitoring ◽  
Partial Seizures ◽  
Targeted Molecular Therapy ◽  
Target Dose ◽  
Electrographic Seizures ◽  
Migrating Partial Seizures

Background: The KCNT1 gene encodes subunits of the Na+-activated K+ channel, widely expressed in the CNS. Mutations of this gene have been implicated in Malignant Migrating Partial Seizures of Infancy (MMPSI). This early-onset epileptic encephalopathy represents a challenge due to pharmacoresistance. The channel-specific mutation represents the potential for targeted pharmacotherapy. Quinidine is a partial antagonist of the KCNT1 encoded channel; patients with MMPSI have been reported to have responded to doses ranging 34.4/kg/d - 60mg/kg/d. We present a case of MMPSI with a KCNTI mutation (c.G1283A:p.R428Q) trialled on quinidine. Methods: Following ineffective trials of 6 anti-seizure medications, this patient was trialled on oral quinidine. This patient was titrated up to a dose of 52mg/kg/d. Twenty-four hour EEG monitoring prior to quinidine therapy, and at target dose were compared. Results: Prior to initiation of quinidine, this patient experienced 22 electrographic seizures over 24 hours. At target dose, this patient experienced greater than 70 seizures over 24 hours. Conclusions: Quinidine has previously been reported to be effective in patients with MMPSI with the same and different mutations. We report the second case of a patient with MMPSI and KCNT1 mutation R428Q with poor clinical response to quinidine.

A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy

2012 ◽  
Vol 34 (9) ◽  
pp. 768-772 ◽  
Author(s):  
Eun Hye Lee ◽  
Mi-Sun Yum ◽  
Min-Hee Jeong ◽  
Kyung Yeon Lee ◽  
Tae-Sung Ko
Keyword(s):  
Epileptic Encephalopathy ◽  
Partial Seizures ◽  
Migrating Partial Seizures

scholarly journals Congenital disorders of glycosylation in children - histopathological and ultrastructural changes in the liver

2021 ◽  
Author(s):  
Patryk Lipiński ◽  
Joanna Cielecka-Kuszyk ◽  
Elżbieta Czarnowska ◽  
Anna Bogdańska ◽  
Piotr Socha ◽  
...  
Keyword(s):  
Ultrastructural Changes ◽  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation

Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!

2021 ◽  
Author(s):  
Alexandre Raynor ◽  
Catherine Vincent-Delorme ◽  
Anne-Sophie Alaix ◽  
Sophie Cholet ◽  
Thierry Dupré ◽  
...  
Keyword(s):  
Congenital Disorders ◽  
Congenital Disorders Of Glycosylation ◽  
Apolipoprotein C

scholarly journals Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?

2014 ◽  
Vol 2 ◽  
pp. 43-45 ◽  
Author(s):  
Rajesh Shankar Iyer ◽  
Thanikasalam ◽  
Mugundhan Krishnan
Keyword(s):  
Partial Seizures ◽  
Migrating Partial Seizures
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