Rajesh RamachandranNair

Epilepsy fellowship training in Canada is heterogeneous in program length, extent of electroencephalography (EEG) training, and exposure to transitional and surgical care. This study aimed to develop a national framework for epilepsy fellowship curricula by analyzing expert consensus within the Canadian League Against Epilepsy (CLAE) through thematic discourse analysis. We conducted a qualitative thematic discourse analysis of recorded CLAE expert panel meetings with 22 participants, including fellowship program directors and faculty educators. Discussions addressed core competencies, assessment practices, program duration, transition training, and advanced care. Transcripts were analyzed to identify recurrent discursive patterns and areas of alignment and tension. Six interrelated themes were identified, emphasizing early mastery of foundational competencies, a staged introduction of advanced skills, hybrid time-and-competency structures, the formative use of EEG examinations, flexible transition and surgical exposure pathways, and guidance rather than governance. Participants negotiated national coherence while preserving institutional flexibility. The findings support early acquisition of core competencies, context-sensitive advanced training, and formative assessment guided by competency-based medical education and sociocultural learning principles. This framework balances standardization with institutional flexibility to improve patient safety, trainee preparedness, and equitable access across Canadian programs.

Epileptologists are neurologists with advanced training in the diagnosis and management of complex epilepsy. In Canada, epilepsy fellowship programs vary considerably in duration and content because of the lack of formal accreditation or standardized curricula. Contributing factors include regional differences in resources, infrastructure, and program-specific goals. To address this variability, the Canadian League Against Epilepsy established a working group to develop a national consensus framework for postgraduate epilepsy education. The process started with a comprehensive literature review of North American and international curricula and standards to ensure alignment. The nominal group technique involved 4 rounds with Canadian epilepsy educators, focusing on idea generation, sharing, discussion, and questionnaire completion on key topics. A 70% agreement threshold was set to establish consensus. Items not reaching this threshold were revisited in a final discussion round. Recorded discussions were analyzed, with the eventual goal of incorporating these findings into a national consensus guideline for epilepsy fellowship training in Canada. Agreement was reached on core topics such as eligibility, fellowship duration, learning objectives, timing of skill acquisition, epilepsy surgery exposure, research involvement, evaluation methods, and accreditation. Areas lacking consensus underwent further exploration in a final survey round. The process also highlighted priorities for future work, including program accreditation and the development of national clinical examinations. This study represents a foundational step in establishing unified standards for epilepsy fellowship training in Canada and reinforces the importance of national collaboration to promote excellence in epilepsy and EEG education.

DEGS1-related leukodystrophy has been described in 33 individuals to date with varying degrees of neurologic symptoms and atrophy/hypomyelination on MRI brain. We describe a family of 4 individuals with DEGS1-related leukodystrophy with phenotypic heterogeneity both within the family and in previously reported individuals. Four related individuals were followed by the neurology, genetics, and neurometabolic teams with clinical examinations, MRI brain, and genetic/metabolic investigations. Trio exome sequencing (ES) was completed after initial investigations returned normal. ES revealed homozygous pathogenic variants in DEGS1, c.110T>C (p.Met37Thr), for the proband with subsequent confirmatory testing of remaining affected family members. While the affected individuals share many similarities, there is notable variability in severity between them as well as with other 33 previously reported individuals, including 2 with the same pathogenic variant. This variability is highlighted in the presence of seizures, nystagmus, failure to thrive, microcephaly, MRI brain findings, and age at disease onset. This report expands on the documented knowledge of DEGS1-related leukodystrophy and adds to the current understanding of the phenotypic range of affected individuals. Consideration of variability in the condition's natural history and outcome is key to appropriately counsel patients and families.

Dr. Ruby M. Schwartz coined the term “classical” ketogenic diet (KD) in 1989, followed by Dr. Stephen L. Kinsman in the USA, who introduced the term “classic” KD in 1992. Over the next decade, the term “classic KD” became increasingly common. So, which term is preferable—classic or classical? Given the widespread usage, we advocate for consistently using “classic KD.” As there is also significant ambiguity about what exactly defines the classic KD compared to other diets, we believe two key aspects are required for the definition of classic KD: the principle of administration and the minimum ketogenic ratio (grams of fat to carbohydrates and protein). Classic KD studies emphasize a tailored, individualized approach to caloric intake and macronutrient distribution, with food items precisely measured. This personalized prescription is the defining feature of classic KD. Recent studies have proposed lower ratios, such as 2:1 or 2.5:1, yet the modified Atkins diet, introduced 80 years later, shows that a 1:1 ratio or lower can also induce ketosis. Therefore, labeling a classic KD with a minimum ratio of 3:1 or 4:1 is misleading. We contend that the classic KD should primarily be defined by its precise, individualized ratios, rather than by an arbitrary minimum value.

Pathogenic variants in the PRRT2 gene cause self-limited infantile epilepsy (SeLIE). Recently, atypical epilepsy phenotypes have been described. We explore the phenotypic spectrum of PRRT2-related epilepsy through international collaboration. All children with epilepsy and either a pathogenic PRRT2 variant or 16p11.2 microdeletion encompassing the PRRT2 gene were included in this retrospective study. Details related to the epilepsy, comorbidities, genetic results, EEG/neuroimaging findings, and treatments are summarized. Forty children were identified, and 24 were male (n = 24/40, 60%). The median age at seizure onset was 5 months (IQR 4, 6) (range 2-150 months). Bilateral tonic-clonic (BTC) (n = 22/40, 55%) and focal motor seizures with impaired awareness evolving to BTC seizures (n = 9/40, 23%) were most common. Thirty-six children (n = 36/40, 90%) had pathogenic PRRT2 variants; 3 were homozygous, and 33 were heterozygous. Four children (n = 4/40, 10%) had 16p11.2 microdeletion. SeLIE was most common, diagnosed in 32 children with heterozygous PRRT2 variants (n = 32/33, 97%), 3 children with homozygous PRRT2 variants (n = 3/3, 100%), and 3 children with 16p11.2 microdeletion (n = 3/4, 75%). Atypical phenotypes were observed in 3 children with heterozygous PRRT2 variants; 1 child evolved from SeLIE to infantile epileptic spasms, another developed spike-wave activation in sleep, and 1 developed focal epilepsy in adolescence. Medically refractory genetic generalized epilepsy and intellectual disability were diagnosed in 1 child with a whole-gene PRRT2 deletion and 16p11.2 microdeletion. All children with homozygous PRRT2 variants had SeLIE with movement disorders. Thirty-seven children (n = 37/40, 93%) were treated with antiseizure medications, and sodium channel blockers were effective in most (20/27 responded, 74%). The median age at seizure freedom was 9 months (IQR 3, 10) (range 3-168 months). Pathogenic PRRT2 variants are commonly associated with SeLIE. However, additional epilepsy phenotypes may be observed with heterozygous PRRT2 variants. In individuals with heterozygous PRRT2 variants, corresponding chromosomal microarray may be helpful to assess for concomitant 16p11.2 microdeletion, given the phenotypic overlap between the 2 conditions. Collection of additional cases is needed, however, to better understand the spectrum of epilepsy phenotypes associated with 16p11.2 microdeletion encompassing the PRRT2 gene and homozygous and compound heterozygous PRRT2 variants. Currently, precise genotype-phenotype relationships are lacking.

Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID). In older children, a less understood phenomenon known as sudden unexplained death in childhood (SUDC) has garnered attention. Additionally, sudden unexpected death in epilepsy (SUDEP) constitutes a rare but recognized complication of epilepsy. Recent investigations indicate overlapping clinical, neuropathological, and genetic characteristics among SUID, SUDC, and SUDEP. Common features include death occurring during sleep, discovery in the prone position, hippocampal abnormalities, and genetic variations associated with epilepsy or cardiac arrhythmias. Notably, video recordings in certain examples of SUDC have captured ‘convulsive’ episodes preceding death in children without prior seizure history, suggesting that seizures may contribute more significantly to sudden paediatric deaths than previously presumed. This review explores these shared elements, underscoring their importance in formulating possible preventative measures against these devastating conditions.