Rajesh RamachandranNair
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View article: <i>DEGS1</i> -Related Hypomyelinating Leukodystrophy
<i>DEGS1</i> -Related Hypomyelinating Leukodystrophy Open
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 a…
View article: Classic or classical ketogenic diet? Definitions and nomenclature
Classic or classical ketogenic diet? Definitions and nomenclature Open
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 comm…
View article: <i>PRRT</i> <i>2</i> -Related Epilepsy
<i>PRRT</i> <i>2</i> -Related Epilepsy Open
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 chr…
View article: Characterizing the fecal microbiome in patients on the ketogenic diet for drug resistant epilepsy
Characterizing the fecal microbiome in patients on the ketogenic diet for drug resistant epilepsy Open
View article: Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy
Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy Open
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 e…
View article: Low-density scalp electrical source imaging of the ictal onset zone network using source coherence maps
Low-density scalp electrical source imaging of the ictal onset zone network using source coherence maps Open
Introduction This study investigated low-density scalp electrical source imaging of the ictal onset zone and interictal spike ripple high-frequency oscillation networks using source coherence maps in the pediatric epilepsy surgical workup.…
View article: D.5 Low density scalp electrical source imaging of the ictal onset zone network using source coherence maps
D.5 Low density scalp electrical source imaging of the ictal onset zone network using source coherence maps Open
Background: This study investigates the utility of low-density scalp electrical source imaging (LD-ESI) of the Ictal Onset Zone (IOZ) and interictal spike ripple high frequency oscillation (ISRHFO) networks using Source Coherence Maps (SCM…
View article: Feasibility and utilization of a national virtual <scp>EEG</scp> course for Canadian residents and fellows
Feasibility and utilization of a national virtual <span>EEG</span> course for Canadian residents and fellows Open
Objective Electroencephalography (EEG) is an essential tool for the diagnosis and management of epilepsy. There is a gap in EEG education for residents in Canadian neurology programs as EEG is only listed in the training requirements as a …
View article: Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine
Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine Open
Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG. A myriad o…
View article: Ketogenic Diet: Parental Experiences and Expectations
Ketogenic Diet: Parental Experiences and Expectations Open
Background The ketogenic diet may be difficult for some patients and their families to implement and can impact physical, emotional, and social well-being. Methods Through principles of fundamental qualitative description, we completed an …
View article: The epilepsy phenotype of <i>ST3GAL3</i>‐related developmental and epileptic encephalopathy
The epilepsy phenotype of <i>ST3GAL3</i>‐related developmental and epileptic encephalopathy Open
Objective ST3GAL3 ‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epileps…
View article: SUDEP counseling: Where do we stand?
SUDEP counseling: Where do we stand? Open
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy‐related death in children and adults living with epilepsy. Several recent clinical practice guidelines have recommended that all individuals living with epilepsy …
View article: Trajectory of Health-Related Quality of Life After Pediatric Epilepsy Surgery
Trajectory of Health-Related Quality of Life After Pediatric Epilepsy Surgery Open
Importance Health-related quality of life (HRQOL) is regarded as a key outcome for evaluating treatment efficacy. However, it is uncertain how HRQOL evolves after epilepsy surgery compared with medical therapy, such as whether it continues…
View article: Sudden unexpected death in epilepsy in children
Sudden unexpected death in epilepsy in children Open
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy‐related mortality in children and adults living with epilepsy. The incidence of SUDEP is comparable in both children and adults; it is approximately 1.2 per 1000 …
View article: P.101 Response to high dose nocturnal diazepam in children with ESES
P.101 Response to high dose nocturnal diazepam in children with ESES Open
Background: To assess the response to high dose daily nocturnal diazepam (HDD) in children with encephalopathy associated with electrical status epilepticus in sleep (ESES). Methods: A prospective cohort of patients (4-12 years), newly dia…
View article: Pathogenic <i>DNM1</i> Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
Pathogenic <i>DNM1</i> Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report Open
Our case confirms that not all individuals with DNM1 pathogenic variants, even affecting the GTPase domain, will present with intractable epilepsy or severe delays. Expanding the known clinical spectrum of dynamin-related neurodevel…
View article: Prioritizing Seizure Safety and SUDEP Counseling in People With Epilepsy and Their Caregivers During the COVID-19 Pandemic
Prioritizing Seizure Safety and SUDEP Counseling in People With Epilepsy and Their Caregivers During the COVID-19 Pandemic Open
View article: Can We Prevent Sudden Unexpected Death in Epilepsy (SUDEP)?
Can We Prevent Sudden Unexpected Death in Epilepsy (SUDEP)? Open
Sudden unexpected death in epilepsy (SUDEP) remains an important cause of epilepsy-related mortality, especially in patients with refractory epilepsy. The exact cause is not known, but postictal cardiac, respiratory, and brainstem dysfunct…
View article: Modified Atkins Diet with slow reduction of carbohydrate
Modified Atkins Diet with slow reduction of carbohydrate Open
Typically, the amount of daily carbohydrate in the Modified Atkins diet (MAD) is restricted to 10-20 g from the beginning of the therapy. It is possible to gradually reduce the daily carbohydrate amount to this target to increase acceptabi…
View article: CJN volume 46 issue 5 Cover and Front matter
CJN volume 46 issue 5 Cover and Front matter Open
An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
View article: Interpreting the Tests of Focal Cortical Dysplasia for Epilepsy Surgery Referral
Interpreting the Tests of Focal Cortical Dysplasia for Epilepsy Surgery Referral Open
Objective: Focal cortical dysplasia (FCD) is a common cause of refractory, focal onset epilepsy in children. Interictal, scalp electroencephalograph (EEG) markers have been associated with these pathologies and epilepsy surgery may be an o…
View article: CJN volume 44 issue 6 Cover and Front matter
CJN volume 44 issue 6 Cover and Front matter Open
An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
View article: Update on Minimal Standards for Electroencephalography in Canada: A Review by the Canadian Society of Clinical Neurophysiologists
Update on Minimal Standards for Electroencephalography in Canada: A Review by the Canadian Society of Clinical Neurophysiologists Open
Surface electroencephalogram (EEG) recording remains the gold standard for noninvasive assessment of electrical brain activity. It is the most efficient way to diagnose and classify epilepsy syndromes as well as define the localization of …
View article: Pyridoxine-dependent seizures: an atypical case
Pyridoxine-dependent seizures: an atypical case Open
Pyridoxine-dependent seizure (PDS) is a readily treatable cause of intractable seizures in childhood (1). Not more than 100 cases have been reported in the English language indexed journals. Delay in initiation of treatment could result in…