[HTML][HTML] A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease�…
Abstract Epilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset
disorder characterized by clusters of seizures. EFMR is due to mutations in the X�…
disorder characterized by clusters of seizures. EFMR is due to mutations in the X�…
Epilepsy genetics: current knowledge, applications, and future directions
The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and�…
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and�…
Dravet syndrome history
C Dravet�- Developmental Medicine & Child Neurology, 2011 - Wiley Online Library
Severe myoclonic epilepsy of infancy (SMEI) is a complex form of epilepsy that was first
described in France in 1978. Because the myoclonic component of this epilepsy is not�…
described in France in 1978. Because the myoclonic component of this epilepsy is not�…
[HTML][HTML] Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy
DT Pederick, KL Richards, SG Piltz, R Kumar…�- Neuron, 2018 - cell.com
X-linked diseases typically exhibit more severe phenotypes in males than females. In
contrast, protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but�…
contrast, protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but�…
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
CB Catarino, JYW Liu, I Liagkouras, VS Gibbons…�- Brain, 2011 - academic.oup.com
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A
mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are�…
mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are�…
[HTML][HTML] Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy
Background Dravet syndrome (DS) is currently considered as an epileptic encephalopathy,
a condition in which epilepsy causes deterioration or developmental delay but preliminary�…
a condition in which epilepsy causes deterioration or developmental delay but preliminary�…
Dravet syndrome (severe myoclonic epilepsy in infancy)
C Dravet, H Oguni�- Handbook of clinical neurology, 2013 - Elsevier
Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and
afebrile, generalized and unilateral, clonic or tonic–clonic seizures that occur in the first year�…
afebrile, generalized and unilateral, clonic or tonic–clonic seizures that occur in the first year�…
Dravet syndrome: diagnosis and long-term course
MB Connolly�- Canadian Journal of Neurological Sciences, 2016 - cambridge.org
Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it
comes with very high morbidity and mortality. The typical presentation is characterized by�…
comes with very high morbidity and mortality. The typical presentation is characterized by�…
Regulation of neural circuit formation by protocadherins
SL Peek, KM Mah, JA Weiner�- Cellular and molecular life sciences, 2017 - Springer
The protocadherins (Pcdhs), which make up the most diverse group within the cadherin
superfamily, were first discovered in the early 1990s. Data implicating the Pcdhs, including�…
superfamily, were first discovered in the early 1990s. Data implicating the Pcdhs, including�…
[HTML][HTML] Brain somatic mosaicism in epilepsy: bringing results back to the clinic
Over the past decade, there has been tremendous progress in understanding brain somatic
mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from�…
mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from�…