ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

2015 ◽  
Vol 47 (Part_A) ◽  
pp. 119-120
Author(s):  
Fadi F. Hamdan ◽  
Isabelle Perrault ◽  
Marlène Rio ◽  
José‐Mario Capo‐Chichi ◽  
Nathalie Boddaert ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Cortical Blindness

scholarly journals Characteristic facial features and cortical blindness distinguish the DOCK7 ‐related epileptic encephalopathy

2021 ◽  
Author(s):  
Edda Haberlandt ◽  
Taras Valovka ◽  
Tanja Janjic ◽  
Thomas Müller ◽  
Georgios Blatsios ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Cortical Blindness ◽  
Facial Features

scholarly journals Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

2014 ◽  
Vol 94 (6) ◽  
pp. 891-897 ◽  
Author(s):  
Isabelle Perrault ◽  
Fadi F. Hamdan ◽  
Marlène Rio ◽  
José-Mario Capo-Chichi ◽  
Nathalie Boddaert ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Cortical Blindness

A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Dipti Kapoor ◽  
Aakanksha Anand ◽  
Shahyan Siddiqui ◽  
Suvasini Sharma
Keyword(s):  
Epileptic Encephalopathy ◽  
Cortical Blindness ◽  
Pathogenic Variant

scholarly journals The phenotype of SCN8A developmental and epileptic encephalopathy

Neurology ◽  
2018 ◽  
Vol 91 (12) ◽  
pp. e1112-e1124 ◽  
Author(s):  
Elena Gardella ◽  
Carla Marini ◽  
Marina Trivisano ◽  
Mark P. Fitzgerald ◽  
Michael Alber ◽  
...  
Keyword(s):  
Early Childhood ◽  
Brain Mri ◽  
Gastrointestinal Symptoms ◽  
Brain Dysfunction ◽  
Clonic Seizure ◽  
Epileptic Encephalopathy ◽  
Cortical Blindness ◽  
Beta Activity ◽  
Risk Of Death ◽  
Extrapyramidal Signs

ObjectiveTo delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).MethodsTwenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.ResultsSixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (<20 minutes) with (1) cyanosis, hypomotor, and vegetative semiology, sometimes unnoticed, followed by (2) tonic-vibratory and (3) (hemi)-clonic manifestations ± evolution to a bilateral tonic-clonic seizure. FS had posterior-temporal/occipital onset, slowly spreading and sometimes migrating between hemispheres. Brain MRI showed progressive parenchymal atrophy and restriction of the optic radiations.Conclusions:SCN8A developmental and epileptic encephalopathy has strikingly consistent electroclinical features, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions. Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment (increasing risk of death) during early childhood, but stabilization occurs in late childhood.

SCN2A A Sequence Variant in Mosaic State in a Patient with Infantile Epileptic Encephalopathy

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
Ch. Thiels ◽  
S. Hoffjan ◽  
C. Köhler ◽  
M. Wolff ◽  
T. Lücke
Keyword(s):  
Epileptic Encephalopathy ◽  
Sequence Variant

Supra- and Infratentorial Atrophy with Cortical Blindness Caused by Mutations in SEPSECS: Case Report

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
D. Schorling ◽  
A. Pschibul ◽  
A. Abicht ◽  
R. Korinthenberg
Keyword(s):  
Case Report ◽  
Cortical Blindness
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