What is OBSOLETE: Cys-loop receptor channelopathy?
Cys-loop receptor channelopathy is an obsolete grouping term previously used in Orphanet (ORPHA:98121) to classify a heterogeneous set of genetic disorders caused by mutations in genes encoding Cys-loop ligand-gated ion channel receptors. The Cys-loop receptor superfamily includes nicotinic acetylcholine receptors (nAChRs), glycine receptors, GABA-A receptors, and serotonin type 3 (5-HT3) receptors. These receptors are critical for fast synaptic transmission in the central and peripheral nervous systems. Mutations in genes encoding subunits of these channels can lead to a variety of neurological conditions, including certain congenital myasthenic syndromes (affecting the neuromuscular junction), hyperekplexia or startle disease (glycine receptor mutations), and some forms of epilepsy (GABA-A receptor or nicotinic receptor mutations). Because this term is classified as obsolete, it is no longer used as a standalone diagnostic entity. Instead, the individual conditions that were grouped under this umbrella — such as autosomal dominant nocturnal frontal lobe epilepsy, hyperekplexia, and various congenital myasthenic syndromes — are now classified and coded separately. Each of these specific disorders has its own distinct genetic basis, inheritance pattern, clinical presentation, and management approach. Patients who may have previously been categorized under this grouping should refer to the specific diagnosis relevant to their condition for accurate clinical information, genetic counseling, and treatment options. Treatments vary widely depending on the specific channelopathy and may include antiepileptic drugs, clonazepam (for hyperekplexia), or acetylcholinesterase inhibitors (for certain myasthenic syndromes).
- Inheritance
- Variable
- Can be inherited in different ways depending on the underlying gene
- Age of Onset
- Variable
- Can begin at different ages, from infancy through adulthood
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for OBSOLETE: Cys-loop receptor channelopathy.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for OBSOLETE: Cys-loop receptor channelopathy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for OBSOLETE: Cys-loop receptor channelopathy.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to OBSOLETE: Cys-loop receptor channelopathy.
Community
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Start the conversation →Latest news about OBSOLETE: Cys-loop receptor channelopathy
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for OBSOLETE: Cys-loop receptor channelopathy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about OBSOLETE: Cys-loop receptor channelopathy
What is OBSOLETE: Cys-loop receptor channelopathy?
Cys-loop receptor channelopathy is an obsolete grouping term previously used in Orphanet (ORPHA:98121) to classify a heterogeneous set of genetic disorders caused by mutations in genes encoding Cys-loop ligand-gated ion channel receptors. The Cys-loop receptor superfamily includes nicotinic acetylcholine receptors (nAChRs), glycine receptors, GABA-A receptors, and serotonin type 3 (5-HT3) receptors. These receptors are critical for fast synaptic transmission in the central and peripheral nervous systems. Mutations in genes encoding subunits of these channels can lead to a variety of neurologic
Frequently asked questions about OBSOLETE: Cys-loop receptor channelopathy
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is OBSOLETE: Cys-loop receptor channelopathy?
OBSOLETE: Cys-loop receptor channelopathy is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:98121). It is typically inherited as variable. Age of onset is generally variable. For verified primary sources, see the UniteRare OBSOLETE: Cys-loop receptor channelopathy page.
How is OBSOLETE: Cys-loop receptor channelopathy inherited?
OBSOLETE: Cys-loop receptor channelopathy follows variable inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for OBSOLETE: Cys-loop receptor channelopathy?
Approved treatments for OBSOLETE: Cys-loop receptor channelopathy are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for OBSOLETE: Cys-loop receptor channelopathy?
Active clinical trials for OBSOLETE: Cys-loop receptor channelopathy are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for OBSOLETE: Cys-loop receptor channelopathy?
Verified OBSOLETE: Cys-loop receptor channelopathy specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full OBSOLETE: Cys-loop receptor channelopathy page for complete clinical details, sources, and verified-specialist listings.
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