American Epilepsy Society 2025 Annual Meeting, December 5 – 9, Atlanta, Conference Coverage
Lost Time: The Cost of Delayed Diagnosis in Dravet Syndrome
A study from Hospital Civil de Guadalajara in Mexico reveals alarming delays in diagnosing Dravet syndrome and significant gaps in appropriate treatment, highlighting critical healthcare delivery challenges for this rare but severe form of epilepsy. The research examined 19 patients over a seven-year period to document their diagnostic and therapeutic journeys.
Dravet syndrome affects approximately 1 in 16,000 births and is caused by mutations in the SCN1A gene in 70-85% of cases. The condition typically begins with febrile seizures in infancy and progresses to drug-resistant epilepsy with neurocognitive and developmental delays. Early diagnosis and treatment initiation before age one can significantly improve outcomes, reducing seizure frequency and severity in 30-50% of patients.
The study found troubling delays in reaching diagnosis. While seizures began at an average age of 6 months, families waited an average of 58 months—nearly five years—before receiving a confirmed clinical or genetic diagnosis. Individual delays ranged from 5 months to over 17 years, representing critical lost time during formative developmental periods.
Treatment patterns revealed serious quality-of-care issues. Nearly half of patients (47%) received medications contraindicated for Dravet syndrome, which can worsen seizures rather than control them. Once properly diagnosed, 79% of patients received appropriate first-line treatment, but only 26% received correct second-line therapies, and no patients received appropriate third-line treatments when needed.
These findings from a tertiary care center in Mexico underscore systemic healthcare challenges affecting Dravet syndrome patients. The researchers emphasize urgent needs for improved early detection protocols, better clinician education about contraindicated medications, enhanced availability of appropriate antiseizure drugs, and strengthened access to specialized epilepsy care and genetic testing. The substantial diagnostic delays and treatment gaps documented in this study likely contribute to preventable morbidity and diminished quality of life for affected children and families.
When Hiccups Aren’t Benign: A Rare Ictal Phenomenon Induced by Chemotherapy
Physicians at Corewell Health in Grand Rapids report an unusual case of chemotherapy-induced seizures that presented as intractable hiccups, highlighting the importance of considering epileptic activity when evaluating atypical neurological symptoms. The case demonstrates how seizures can manifest in unexpected ways that may initially be mistaken for other conditions.
A 70-year-old man with no history of epilepsy was hospitalized for autologous bone marrow transplant following high-dose melphalan chemotherapy for multiple myeloma. Within hours of receiving the chemotherapy, he developed persistent hiccups occurring one to two times every five minutes. The hiccups were accompanied by jaw clenching, bilateral platysma muscle spasms, and palatal myoclonus. While these episodes briefly interfered with his speech, he remained fully aware throughout.
Medical staff initially considered several alternative diagnoses, including neck dystonia or a psychogenic response to transplant-related stress. However, electroencephalography revealed a striking pattern: midline frontocentral low-voltage fast activity evolving into higher-amplitude polyspikes, followed by slowing and cessation lasting five to ten seconds. The EEG showed clear electrographic evolution with distinct onset and offset that correlated precisely with the clinical episodes, confirming these were focal aware seizures rather than benign hiccups.
During one hour of monitoring, more than 50 electrographic seizures were recorded. Treatment with a loading dose of levetiracetam at 30 mg per kilogram followed by maintenance therapy resulted in complete resolution of both the clinical hiccups and the electrographic seizures. Brain MRI showed no structural abnormalities.
While hiccups as a seizure manifestation are extremely rare, a few prior cases have documented them originating from temporal lobe epileptogenic foci, likely involving autonomic nervous system pathways. This case underscores the importance of maintaining clinical suspicion for seizure activity when patients present with unusual, repetitive motor behaviors, particularly in settings known to lower seizure threshold such as chemotherapy administration. Prompt EEG evaluation can be crucial for accurate diagnosis and appropriate treatment.