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 …
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 …
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 …
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 …
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine
DE Weese‐Mayer, CM Rand… - Pediatric …, 2009 - Wiley Online Library
The modern story of CCHS began in 1970 with the first description by Mellins et al., came
most visibly to the public eye with the ATS Statement in 1999, and continues with …
most visibly to the public eye with the ATS Statement in 1999, and continues with …
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
SM Slattery, IA Perez, I Ceccherini, ML Chen… - Clinical Autonomic …, 2023 - Springer
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 …
Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death
JO Gronli, BA Santucci, SE Leurgans… - Pediatric …, 2008 - Wiley Online Library
Abstract Objective Children with Congenital Central Hypoventilation Syndrome (CCHS)
have cardiovascular symptoms consistent with the autonomic nervous system dysregulation …
have cardiovascular symptoms consistent with the autonomic nervous system dysregulation …
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 …
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 …