STXBP1-related disorders, often referred to as STXBP1 encephalopathy, are most accurately described as a neurodevelopmental disorder caused by mutations in the STXBP1 gene. While you may encounter older terms like early infantile epileptic encephalopathy type 4 (EIEE4) in medical literature, the scientific community now prefers the term STXBP1-related disorder to encompass the broad spectrum of clinical presentations beyond early-onset seizures. What are the common synonyms and historical names for STXBP1? Because our understanding of STXBP1 has evolved rapidly, the terminology has shifted from symptom-based descriptions to a gene-centric nomenclature. Historical literature frequently refers to the condition as Early Infantile Epileptic Encephalopathy 4 (EIEE4) or Ohtahara syndrome, though these names are now considered outdated or overly specific to the seizure type. Other terms you might find in older medical records include: STXBP1-related encephalopathy MUNC18-1 deficiency STXBP1-related neurodevelopmental disorder Early-onset epileptic encephalopathy with suppression-burst How is the condition classified in medical systems? In clinical and genetic databases, the condition is primarily cataloged by its genetic origin. The official classification systems include: OMIM (Online Mendelian Inheritance in Man): #612164 Orphanet: ORPHA:282772 (STXBP1-related encephalopathy) ICD-10/11: Often coded under G40.8 (Other epilepsies) or specific neurodevelopmental disorder codes, reflecting the genetic etiology. Why are there so many names for STXBP1? The variety of names for STXBP1 stems from the "diagnostic odyssey" families often face. Initially, clinicians named the condition based on the specific type of epilepsy observed (e.g., Ohtahara syndrome). As genetic testing became more accessible, researchers identified that the STXBP1 gene is responsible for a wider range of symptoms, including intellectual disability, autism, and movement disorders, even in the absence of traditional epilepsy. This shift toward a gene-first approach ensures that 271 members of our DiseaseMaps.org community and others worldwide receive a more precise diagnosis. Next steps Consult with a clinical geneticist to confirm your specific STXBP1 variant. Join the DiseaseMaps.org community to connect with other families navigating an STXBP1 diagnosis. Request that your medical records be updated to reflect the most current terminology to ensure consistency across specialty providers. Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider with any questions regarding a medical condition. References NIH Genetic and Rare Diseases Information Center (GARD): STXBP1-related disorder OMIM (Online Mendelian Inheritance in Man): #612164 Orphanet: STXBP1-related encephalopathy (ORPHA:282772) STXBP1 Foundation: Patient resources and clinical research updates

Short answer · Medically reviewed summary · Last updated: 2026-05-08

STXBP1-related disorders, often referred to as STXBP1 encephalopathy, are most accurately described as a neurodevelopmental disorder caused by mutations in the STXBP1 gene. While you may encounter older terms like early infantile epileptic encephalopathy type 4 (EIEE4) in medical literature, the scientific community now prefers the term STXBP1-related disorder to encompass the broad spectrum of clinical presentations beyond early-onset seizures. What are the common synonyms and historical names for STXBP1? Because our understanding of STXBP1 has evolved rapidly, the terminology has shifted from symptom-based descriptions to a gene-centric nomenclature.

STXBP1 synonyms

Name: STXBP1 synonyms
Creator: DiseaseMaps Editorial Team
Published: 2016-06-01UTC03:03:43.0000000

Other names for STXBP1: synonyms, acronyms and related terms used by doctors and patients.

STXBP1-related disorders, often referred to as STXBP1 encephalopathy, are most accurately described as a neurodevelopmental disorder caused by mutations in the STXBP1 gene. While you may encounter older terms like early infantile epileptic encephalopathy type 4 (EIEE4) in medical literature, the scientific community now prefers the term STXBP1-related disorder to encompass the broad spectrum of clinical presentations beyond early-onset seizures.

What are the common synonyms and historical names for STXBP1?

Because our understanding of STXBP1 has evolved rapidly, the terminology has shifted from symptom-based descriptions to a gene-centric nomenclature. Historical literature frequently refers to the condition as Early Infantile Epileptic Encephalopathy 4 (EIEE4) or Ohtahara syndrome, though these names are now considered outdated or overly specific to the seizure type. Other terms you might find in older medical records include:

STXBP1-related encephalopathy

MUNC18-1 deficiency

STXBP1-related neurodevelopmental disorder

Early-onset epileptic encephalopathy with suppression-burst

How is the condition classified in medical systems?

In clinical and genetic databases, the condition is primarily cataloged by its genetic origin. The official classification systems include:

OMIM (Online Mendelian Inheritance in Man): #612164

Orphanet: ORPHA:282772 (STXBP1-related encephalopathy)

ICD-10/11: Often coded under G40.8 (Other epilepsies) or specific neurodevelopmental disorder codes, reflecting the genetic etiology.

Why are there so many names for STXBP1?

The variety of names for STXBP1 stems from the "diagnostic odyssey" families often face. Initially, clinicians named the condition based on the specific type of epilepsy observed (e.g., Ohtahara syndrome). As genetic testing became more accessible, researchers identified that the STXBP1 gene is responsible for a wider range of symptoms, including intellectual disability, autism, and movement disorders, even in the absence of traditional epilepsy. This shift toward a gene-first approach ensures that 271 members of our DiseaseMaps.org community and others worldwide receive a more precise diagnosis.

Next steps

Consult with a clinical geneticist to confirm your specific STXBP1 variant.

Join the DiseaseMaps.org community to connect with other families navigating an STXBP1 diagnosis.

Request that your medical records be updated to reflect the most current terminology to ensure consistency across specialty providers.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider with any questions regarding a medical condition.