000			01988cam a2200229 4500500
005			20250121162741.0
041			_afre
042			_adc
100	1	0	_aGarg, Meenal _eauthor
700	1	0	_a Goraya, Jatinder _eauthor
700	1	0	_a Kochar, Gurpreet _eauthor
700	1	0	_a Jain, Vivek _eauthor
245	0	0	_aITPA-associated developmental and epileptic encephalopathy: characteristic neuroradiological features with novel clinical and biochemical findings
260			_c2022.
500			_a69
520			_aDevelopmental and epileptic encephalopathies (DEE) in children have an everexpanding range of rare causes. Mutations in ITPA have been recently described as causative of DEE, but only a small number of patients have been reported so far. We describe two Indian children with novel variants in the ITPA gene. Both patients had characteristic, previously described, neuroradiological findings that helped us suspect this condition even before genetic evaluation. In addition, we present new and rarely reported clinical findings associated with this condition: migrating partial epilepsy, fever-triggered seizures, movement disorder including oculogyria and dystonic tremor. One of the patients also had high cerebrospinal fluid glycine levels. Both patients had drug-responsive epilepsy, in contrast to drug-resistant seizures in previously reported patients. These patients reiterate the utility of awareness of specific neuroradiological findings and subsequent genetic evaluation to help make a precise diagnosis. Our report also extends the clinical spectrum and provides insight into possible biochemical causes for the neuroimaging findings seen in this condition.
690			_amovement disorder
690			_amigrating partial epilepsy
690			_ahyperglycinaemia
786	0		_nEpileptic Disorders | Vol 24 | 3 | 2022-03-01 | p. 583-588 | 1294-9361
856	4	1	_uhttps://shs.cairn.info/revue-epileptic-disorders-2022-3-page-583?lang=en&redirect-ssocas=7080
999			_c612176 _d612176