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Search Results to Debopam Samanta

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Samanta, Debopam

One or more keywords matched the following items that are connected to Samanta, Debopam

Item Type	Name
Concept	Frameshift Mutation
Concept	Mutation
Concept	Mutation, Missense
Academic Article	Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation.
Academic Article	Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.
Academic Article	De novo R853Q mutation of SCN2A gene and West syndrome.
Academic Article	Epilepsy with PCDH19 mutation masquerading as benign partial epilepsy in infancy.
Academic Article	Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation.
Academic Article	A 15-year-old with seizures: late diagnosis of pyridoxine-dependent epilepsy.
Academic Article	Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.
Academic Article	An infant with ash-leaf and caf? au lait spots: a case of double phakomatosis.
Academic Article	KIAA2022-related disorders can cause Jeavons (eyelid myoclonia with absence) syndrome.
Academic Article	Epileptic spasm and de novo KCNB1 mutation: if it is not one potassium channel, it is another!
Academic Article	Clinicopathologic Findings of CARS2 Mutation.
Academic Article	PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex.
Academic Article	Widening phenotypic spectrum of GABBR2 mutation.
Academic Article	Reply to Cerebral Infarction in CARS2 Mutation.
Academic Article	Complex heterozygous polymerase gamma mutation and cerebral folate deficiency in a child with refractory partial status.
Academic Article	The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy.
Academic Article	Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Academic Article	Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status.
Academic Article	GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.
Academic Article	Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial.

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Mutation