Systematic review of the genetics of sudden unexpected death in epilepsy: potential overlap with sudden cardiac death and arrhythmia‐related genes
CAA Chahal, MN Salloum, F Alahdab… - Journal of the …, 2020 - Am Heart Assoc
Background Sudden unexpected death in epilepsy (SUDEP) is the leading cause of
epilepsy‐related death. SUDEP shares many features with sudden cardiac death and …
epilepsy‐related death. SUDEP shares many features with sudden cardiac death and …
An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management
DE Weese-Mayer, EM Berry-Kravis… - American journal of …, 2010 - atsjournals.org
Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
alveolar hypoventilation and autonomic dysregulation. Purpose:(1) To demonstrate the …
alveolar hypoventilation and autonomic dysregulation. Purpose:(1) To demonstrate the …
The genetics of congenital central hypoventilation syndrome: clinical implications
J Bishara, TG Keens, IA Perez - The Application of Clinical …, 2018 - Taylor & Francis
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the
autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to …
autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to …
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of …
DE Weese‐Mayer, EM Berry‐Kravis… - American journal of …, 2003 - Wiley Online Library
Idiopathic congenital central hypoventilation syndrome (CCHS) has been linked to
autonomic nervous system dysregulation and/or dysfunction (ANSD) since it was first …
autonomic nervous system dysregulation and/or dysfunction (ANSD) since it was first …
Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome
M Vanderlaan, CR Holbrook, M Wang… - Pediatric …, 2004 - Wiley Online Library
This study examined the cross‐sectional medical and social characteristics of children
diagnosed with congenital central hypoventilation syndrome (CCHS). A detailed …
diagnosed with congenital central hypoventilation syndrome (CCHS). A detailed …
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
Purpose With contemporaneous advances in congenital central hypoventilation syndrome
(CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and …
(CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and …
Heart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses
Background Autonomic nervous system (ANS) dysregulation has been described in
congenital central hypoventilation syndrome (CCHS). The objectives were to describe heart …
congenital central hypoventilation syndrome (CCHS). The objectives were to describe heart …
Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life
Abstract The “bedside-to-bench” Congenital Central Hypoventilation Syndrome (CCHS)
research journey has led to increased phenotypic-genotypic knowledge regarding …
research journey has led to increased phenotypic-genotypic knowledge regarding …
Congenital central hypoventilation syndrome: diagnosis and management
MA Maloney, SS Kun, TG Keens… - Expert Review of …, 2018 - Taylor & Francis
Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined
by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene …
by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene …
Pediatric home mechanical ventilation: a Canadian Thoracic Society clinical practice guideline executive summary
R Amin, I MacLusky, D Zielinski… - Canadian Journal of …, 2017 - Taylor & Francis
Over the last 30 to 40 years, improvements in technology, as well as changing clinical
practice regarding the appropriateness of long-term ventilation in patients with “non-curable” …
practice regarding the appropriateness of long-term ventilation in patients with “non-curable” …