Deb K. Pal

Deb K. Pal

Basic And Clinical Neuroscience Department, Institute Of Psychiatry, Psychology And Neuroscience, King's College London, London, Uk Evelina London Children's Hospital, London, ...

Direct Impact

Concepts for which Deb K Pal has direct influence:

rolandic epilepsy
rural india
trait impulsivity
response inhibition
reading disability
measurement properties
febrile seizures

External impact

Concepts related to the work of other authors for which Deb K Pal has influence:

dravet syndrome
scn1a epileptic encephalopathies
rolandic epilepsy
profound developmental impairment
9 children
febrile seizures
movement disorder

Prominent publications by Deb K. Pal

KOL-Index: 253 Variants of the SCN1A gene encoding the neuronal voltage-gated sodium channel NaV1.1 cause over 85% of all cases of Dravet syndrome, a severe and often pharmacoresistent epileptic encephalopathy with mostly infantile onset. But with the increased availability of genetic testing for patients with epilepsy, variants in SCN1A have now also been described in a range of other epilepsy phenotypes. ...
Known for
Fast Inactivation Onset | Increased Availability | Autosomal Dominant Frontal Lobe | Neuronal Voltage-Gated Sodium Channel
KOL-Index: 125 Anoxic-epileptic seizures (AES) are rare outcomes of common childhood reflex anoxic syncope that trigger a true epileptic seizure. The term AES was coined by Stephenson in 1983, to differentiate these events from convulsive syncopes and the more common reflex anoxic syncopes. A genetic susceptibility for AES has been postulated; but, its molecular basis has up to now been elusive. We report ...
Known for
Anoxic | Repeatedly Normal Eegs | Tonic-Clonic Seizures | Breath-Holding Spells
KOL-Index: 70 The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the ...
Known for
Focal Seizures | Decades | Presentations | Epilepsy Syndromes
KOL-Index: 66 OBJECTIVE: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum. METHODS: We used high-density single-nucleotide polymorphism arrays to analyze ...
Known for
Jae Identified | Cnvs Categories | Epilepsy Subtypes | Pathways Absence
KOL-Index: 61 ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 individuals with pathogenic variants in ZMYND11. We obtained clinical descriptions of 16 new and nine published individuals, plus detailed case ...
Known for
16 Published | Detailed Epilepsy Descriptions | Idiopathic Focal Epilepsy | Genotype-Phenotype Correlation
KOL-Index: 57 OBJECTIVE: Impulsivity is a multidimensional construct that can predispose to psychopathology. Meta-analysis demonstrates an association between response impulsivity and Juvenile Myoclonic Epilepsy (JME), a common genetic generalized epilepsy. Here, we test the hypotheses that trait impulsivity is (i) elevated in JME compared to controls; (ii) moderated by specific seizure characteristics; ...
Known for
Bis-Brief Scores | Psychopathology | Cortico-Striatal Thalamocortical Networks | Jme Compared
KOL-Index: 48 TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. As pathomechanisms and genotype-phenotype correlations are not completely understood, we aimed to provide further insights into the phenotypic and genetic spectrum. We here present a multicenter case series of ten unrelated individuals from four ...
Known for
Pathomechanisms Genotype | Motor Protein | Tubulinopathy Rare | Neuroradiological Genetic
KOL-Index: 45 OBJECTIVE: The objectives of the study were to (1) map questions in epilepsy-specific patient-reported outcome measures (PROMs) of children's health-related quality of life (HRQoL) to a proposed core outcome set (COS) for childhood epilepsy research and (2) gain insight into the acceptability of two leading candidate PROMs. METHOD: We identified 11 epilepsy-specific PROMs of children's HRQoL ...
Known for
10 Domains | Discrete Item | Functioning Mental | Childrens Hrqol 17 Questionnaire
KOL-Index: 44 OBJECTIVE: Establishing a core set of outcomes to be evaluated and reported in intervention trials aims to improve the usefulness of health research. There is no established core outcome set (COS) for childhood epilepsies. The aim of this study was to select a COS to be used in evaluative research of interventions for children with rolandic epilepsy (RE). METHODS: We followed guidance from ...
Known for
Identified Included | Candidate Survey | Set Methods | Professionals Eligible
KOL-Index: 42 Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define the electroencephalographic (EEG) trait for the syndrome, are a feature of several related childhood epilepsies and are frequently observed in common developmental disorders (eg, speech dyspraxia, ...
Known for
Genome-Wide Linkage | Electroencephalographic | Developmental Coordination Disorder | Brain Elongator

Basic and Clinical Neuroscience Department, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK Evelina London Children's Hospital, London, UK MRC Centre for Neurodevelopmental Disorders, King's College London, Lon

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