Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
The core Dravet syndrome phenotype
C Dravet - Epilepsia, 2011 - Wiley Online Library
Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe
myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed …
myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009
AT Berg, SF Berkovic, MJ Brodie, J Buchhalter… - 2010 - Wiley Online Library
Summary The International League Against Epilepsy (ILAE) Commission on Classification
and Terminology has revised concepts, terminology, and approaches for classifying …
and Terminology has revised concepts, terminology, and approaches for classifying …
The hidden genetics of epilepsy—a clinically important new paradigm
RH Thomas, SF Berkovic - Nature Reviews Neurology, 2014 - nature.com
Understanding the aetiology of epilepsy is essential both for clinical management of patients
and for conducting neurobiological research that will direct future therapies. The aetiology of …
and for conducting neurobiological research that will direct future therapies. The aetiology of …
Spontaneously regulated vs. controlled ventilation of acute lung injury/acute respiratory distress syndrome
JJ Marini - Current opinion in critical care, 2011 - journals.lww.com
Optimizing gas exchange, avoiding lung injury, and preserving respiratory muscle strength
and endurance are vital therapeutic objectives for managing acute lung injury. Accordingly …
and endurance are vital therapeutic objectives for managing acute lung injury. Accordingly …
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked
mode of inheritance and an unusual expression pattern. Disorders arising from mutations on …
mode of inheritance and an unusual expression pattern. Disorders arising from mutations on …
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
C Depienne, D Bouteiller, B Keren, E Cheuret… - PLoS …, 2009 - journals.plos.org
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused
by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular …
by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular …
Classification of the epilepsies: new concepts for discussion and debate—special report of the ILAE Classification Task Force of the Commission for Classification and …
Summary The ILAE Task Force on Classification presents a road map for the development of
an updated, relevant classification of the epilepsies. Our objective is to explain the process …
an updated, relevant classification of the epilepsies. Our objective is to explain the process …
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
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 …