Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits
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DOI: 10.3390/genes13030429
Abstract: Here, we report a consanguineous family harboring a novel homozygous frame-shift mutation in ASPM leading to a truncation of the ASPM protein after amino acid position 1830. The phenotype of the patients was associated with… read more here.
Keywords: associated microcephaly; family; microcephaly epilepsy; cognitive deficits ... See more keywords
Screening Children with Epilepsy for Behavioral Problems: Utility of the Strength and the Difficulties Questionnaire
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DOI: 10.4103/aian.aian_226_21
Abstract: Sibony et al.[3] reported that these folds could be detected in only 43% of the cases using CFP possibly due to slight offset in the photographic plane of focus or obscuration of folds by superficial… read more here.
Keywords: behavioral problems; children epilepsy; utility strength; epilepsy behavioral ... See more keywords